| Accession | HsInv0156 | Region of the inversion | chr2:123192644-123199574 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 5,945 bp | Supporting predictions | 5 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr2:123192644-123193669 |
| Ancestral orientation | NA | Breakpoint 2 | chr2:123198628-123199574 |
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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 | chr2:123193068-123193068 | Breakpoint 2 | chr2:123198970-123198970 |
| 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 | chr2:123193069-123193069 | Breakpoint 2 | chr2:123198973-123198973 |
| Individuals | 735 out of 2504 individuals
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| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr2:123183062-123193121 | Breakpoint 2 | chr2:123193849-123208948 | ||||
| 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 | chr2:123193069-123193244 | Breakpoint 2 | chr2:123198974-123199228 | ||||
| Individuals |
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| Description | Next-generation sequencing and analysis by paired-end mapping of a male Han Chinese individual genome | ||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||
| Name | |||
| Breakpoint 1 | chr2:123193059-123193059 | Breakpoint 2 | chr2:123199085-123199085 |
| Individuals | |||
+ 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 A139c |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr2:123192644-123193669 | Breakpoint 2 | chr2:123198628-123199574 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.92 | GC content | 0.29 | Stability | 1.74 |
+ 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 | chr2:123192644-123193669 | Breakpoint 2 | chr2:123198628-123199574 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2017-09-18 00:00:00
| Breakpoint 1 | chr2:123192644-123193669 | Breakpoint 2 | chr2:123198628-123199574 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:05
| Breakpoint 1 | chr2:123192644-123193669 | Breakpoint 2 | chr2:123198628-123199574 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:05
| Breakpoint 1 | chr2:123192644-123193669 | Breakpoint 2 | chr2:123198628-123199574 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:15:05
| Breakpoint 1 | chr2:123192644-123193669 | Breakpoint 2 | chr2:123198628-123199574 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
