| Accession | HsInv0042 | Region of the inversion | chr2:234134828-234152510 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 16,928 bp | Supporting predictions | 4 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr2:234134828-234135583 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:234151755-234152510 |
| Comments | False inversion prediction caused by HG18 assembly error that has been corrected in HG19
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr2:234135025-234135688 | Breakpoint 2 | chr2:234151644-234154379 | ||||
| Individuals |
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| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr2:234134660-234134660 | Breakpoint 2 | chr2:234148073-234148073 | ||||||
| Individuals |
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| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr2:234136102-234136102 | Breakpoint 2 | chr2:234151235-234151235 | ||||
| Individuals |
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- Martinez-Fundichely et al. 2014 (in preparation)
| Description | Accurate prediction of inversions in the human genome from Kidd et al. 2008 fosmid paired-end mapping data using the GRIAL algorithm, and validation of some predictions by sequence analysis and PCR | ||||||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr2:234112990-234136386 | Breakpoint 2 | chr2:234151531-234172107 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 76 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
| Description | Validation and characterization of human inversions predicted by comparison of two independently assembled human genomes | ||
| Method | Sequence analysis |
| Status | Breakpoint refinement |
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
-Genome Reference Consortium
| Description | Update of genome sequence assemblies to correct errors and better represent the existing genome diversity | ||||
| Method | Genome sequence assembly update |
| Status | False |
| Comment | GRC issue |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:234134828-234135583 | Breakpoint 2 | chr2:234151755-234152510 | ||
| Study | Vicente-Salvador et al. 2017 | ||||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and one sequenced fosmid | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.67 | GC content | 0.37 | Stability | 1.86 |
| Comments |
HG18 genome assembly error probably caused by inverted L1PA3 elements 99% identical |
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+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
Not defined
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:31
| Breakpoint 1 | chr2:234135102-234136386 | Breakpoint 2 | chr2:234151644-234152235 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:31
| Breakpoint 1 | chr2:234135102-234136386 | Breakpoint 2 | chr2:234151531-234152235 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:31
| Breakpoint 1 | chr2:234135102-234136386 | Breakpoint 2 | chr2:234151644-234152235 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:31
| Breakpoint 1 | chr2:234134828-234135583 | Breakpoint 2 | chr2:234151755-234152510 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and one sequenced fosmid | ||
| Definition method | Manual curation | ||
Hosted by the Comparative and Functional Genomics group at the Hospital del Mar Research Institute
Contact us at invfestdb@researchmar.net
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