| Accession | HsInv0041 | Region of the inversion | chr2:225001193-225002195 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 556 bp | Supporting predictions | 4 |
| Inverted allele frequency | 0.4583 | Mechanism of origin | FoSTeS |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr2:225001193-225001224 |
| Ancestral orientation | Standard | Breakpoint 2 | chr2:225001332-225002195 |
| Comments | Derived allele includes two deletions of 29 bp and 0.9 kb flanking the inverted region
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Next generation sequencing and analysis by paired-end mapping of an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr2:225000935-225001223 | Breakpoint 2 | chr2:225001311-225002048 | ||||
| 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 | chr2:225000943-225001065 | Breakpoint 2 | chr2:225001258-225001328 | ||||
| Individuals |
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| Name | |||||||
| Breakpoint 1 | chr2:225001231-225001321 | Breakpoint 2 | chr2:225002212-225002422 | ||||
| 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 | chr2:225001224-225001224 | Breakpoint 2 | chr2:225001326-225001326 | ||||
| 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 | Polymerase chain reaction (PCR) |
| Status | Validated |
| Genotyping | 98 individuals: 96 HapMap/1000GP, 2 Other 32 STD/STD - 47 STD/INV - 19 INV/INV  |
- Frequency
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+ Africa (AFR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
Yoruba
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Yoruba in Ibadan, Nigeria (YRI) (Vicente-Salvador et al. 2017) | 4 | 4 | 0.5000 | 0.5000 | > 0.5 |
| Africa (AFR)
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Africa (AFR) summary | 4 | 4 | 0.5000 | 0.5000 | > 0.5 |
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+ Europe (EUR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Northwestern European
|
Utah residents with Northern and Western European ancestry (CEU) (Vicente-Salvador et al. 2017) | 64 | 58 | 0.5469 | 0.4531 | > 0.5 |
| Europe (EUR)
|
Europe (EUR) summary | 64 | 58 | 0.5469 | 0.4531 | > 0.5 |
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+ East Asia (EAS)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Han Chinese
|
Han Chinese in Beijing, China (CHB) (Vicente-Salvador et al. 2017) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Japanese
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Japanese in Tokyo, Japan (JPT) (Vicente-Salvador et al. 2017) | 1 | 1 | 0.5000 | 0.5000 | > 0.3 |
| East Asia (EAS)
|
East Asia (EAS) summary | 2 | 1 | 0.7500 | 0.2500 | > 0.5 |
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+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown
|
Unknown (Vicente-Salvador et al. 2017) | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
| Unknown
|
Unknown summary | 2 | 3 | 0.2500 | 0.7500 | > 0.5 |
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+ Breakpoints
| Breakpoint 1 | chr2:225001193-225001224 | Breakpoint 2 | chr2:225001332-225002195 | ||
| Study | Vicente-Salvador et al. 2017 | ||||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
FoSTeS
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| Flexibility | 9.56 | GC content | 0.5 | Stability | 2.07 |
| Comments |
Inverted region is flanked by two deletions of 29 bp and 0.9 kb, and was probably generated by by two fork stalling and template switching (FoSTeS) events, at least one of which was mediated by microhomology. Breakpoint positions comprise each deleted sequence. |
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+ Evolutionary history
| Ancestral allele | Standard | Age | ND |
| Derived allele | Inverted | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Standard | Polymerase chain reaction (PCR) | Vicente-Salvador et al. 2017 |
| Gorilla | Standard | Polymerase chain reaction (PCR) | Vicente-Salvador et al. 2017 |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2018-10-26 15:06:46
| Breakpoint 1 | chr2:225001193-225001224 | Breakpoint 2 | chr2:225001332-225002195 |
| Study | Vicente-Salvador et al. 2017 | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:15:03
| Breakpoint 1 | chr2:225001193-225001195 | Breakpoint 2 | chr2:225001332-225001334 |
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:15:03
| Breakpoint 1 | chr2:225000721-225001543 | Breakpoint 2 | chr2:225001822-225001858 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
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Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.