| Accession | HsInv1066 | Region of the inversion | chr12:45575313-45596547 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 17,336 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr12:45575313-45578700 |
| Ancestral orientation | NA | Breakpoint 2 | chr12:45592136-45596547 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr12:45576715-45576715 | Breakpoint 2 | chr12:45596025-45596025 |
| Individuals | |||
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||||||||||
| Method | Paired-end mapping (PEM), Long-read sequencing | ||||||||||
| Name | |||
| Breakpoint 1 | chr12:45576737-45576737 | Breakpoint 2 | chr12:45596023-45596023 |
| Individuals | 232 out of 2504 individuals
 | ||
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr12:45576442-45577571 | Breakpoint 2 | chr12:45592136-45596547 | ||||
| Individuals |
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+ Validation and genotyping
| Description | Discovery, genotyping and phasing of structural variants detected from Illumina whole genome sequencing data of 769 individuals from 250 Dutch families belonging to the GoNL project | ||||
| Method | Polymerase chain reaction (PCR) |
| Status | Inconclusive |
| Comment | Tested in sample A78b. PCR assay failed. |
| Description | Integrated analysis of structural variants in 2,504 human genomes through short-read and long-read DNA sequencing and statistical imputation using the 1000 Genomes Project data | ||
| Method | Sequence analysis |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr12:45575313-45578700 | Breakpoint 2 | chr12:45592136-45596547 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.55 | GC content | 0.31 | Stability | 1.78 |
+ 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
- 2017-09-29 00:00:00
| Breakpoint 1 | chr12:45575313-45578700 | Breakpoint 2 | chr12:45592136-45596547 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr12:45575313-45578700 | Breakpoint 2 | chr12:45592136-45596547 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:27
| Breakpoint 1 | chr12:45575313-45578700 | Breakpoint 2 | chr12:45592136-45596547 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
