| Accession | HsInv1130 | Region of the inversion | chr2:116689570-116703348 |
| Status | Validated | Prediction type | Complex |
| Estimated Inversion Size | 5,895 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr2:116689570-116695805 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:116693816-116703348 |
| Comments | False inversion prediction caused by a complex rearrangement including a 424-bp inverted duplication, a 294-bp direct duplication and a 4-bp deletion
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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 | chr2:116690805-116690805 | Breakpoint 2 | chr2:116698348-116698348 |
| 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 | chr2:116694570-116694570 | Breakpoint 2 | chr2:116698816-116698816 |
| Individuals | 746 out of 2504 individuals
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| Description | Next generation sequencing and analysis by paired-end mapping of a Korean individual genome | ||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr2:116690807-116691075 | Breakpoint 2 | chr2:116698350-116698595 | ||||
| Individuals |
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| Name | |||||||
| Breakpoint 1 | chr2:116694512-116694767 | Breakpoint 2 | chr2:116698535-116698813 | ||||
| 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 | Validated |
| Comment | Tested in sample A105c |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:116689570-116695805 | Breakpoint 2 | chr2:116693816-116703348 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.84 | GC content | 0.42 | Stability | 1.83 |
+ 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
HsInv1035 and HsInv1042 merge into HsInv1130
- 2017-09-29 00:00:00
| Breakpoint 1 | chr2:116689570-116695805 | Breakpoint 2 | chr2:116693816-116703348 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr2:116689570-116699570 | Breakpoint 2 | chr2:116693816-116703816 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-02-16 00:00:00
| Breakpoint 1 | chr2:116690475-116695112 | Breakpoint 2 | chr2:116697995-116699135 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint | ||
| Definition method | Default informatic definition | ||
