| Accession | HsInv0335 | Region of the inversion | chr12:7833215-7877700 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 34,482 bp | Supporting predictions | 1 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Breaks one gene | Breakpoint 1 | chr12:7833215-7852537 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:7877014-7877700 |
| Comments | False inversion prediction caused by a 18.5-kb inverted duplication in tandem
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
- 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 | chr12:7833215-7852537 | Breakpoint 2 | chr12:7877014-7877700 | ||||||||||||||||||||
| D/C Score | -1.1 | Disc. Support Prob. | 0.61307 | ||||||||||||||||||||
| Support | 9 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
-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 | Fosmid sequence analysis |
| Status | False |
| Comment | Analysis of AC216751.4, AC233060.1, and AC217413.4 fosmid sequences indicates that individual NA18555 has a 18.5-kb inverted duplication of positions Chr12:7859096-7877930 inserted in region Chr12:7854958-7854986, which was also duplicated in the process |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:7833215-7852537 | Breakpoint 2 | chr12:7877014-7877700 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
NA
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| Flexibility | 10.65 | GC content | 0.49 | Stability | 2.01 |
| Comments |
Inverted duplication was probably generated by several FoSTeS events mediated by microhomology |
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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
- SLC2A14
| Gene position | chr12:7857663-7916762 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:27
| Breakpoint 1 | chr12:7833215-7852537 | Breakpoint 2 | chr12:7877014-7877700 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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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