| Accession | HsInv0344 | Region of the inversion | chr14:34079802-34101227 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 14,409 bp | Supporting predictions | 2 |
| Inverted allele frequency | 0.5446 | Mechanism of origin | NAHR |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr14:34079802-34086813 |
| Ancestral orientation | NA | Breakpoint 2 | chr14:34094204-34101227 |
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Paired-end mapping analysis of the J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr14:34078526-34086808 | Breakpoint 2 | chr14:34094285-34103208 | ||||
| Individuals |
| ||||||
- 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 | chr14:34061584-34082991 | Breakpoint 2 | chr14:34096182-34122127 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.97459 | ||||||||||||||||||||
| Support | 19 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
+ Validation and genotyping
| Description | Validation and genotyping of 22 inversion predictions by inverse PCR | ||||
| Method | Inverse polymerase chain reaction (iPCR) |
| Status | Validated |
| Genotyping | 77 individuals: 76 HapMap/1000GP, 1 Other 16 STD/STD - 34 STD/INV - 27 INV/INV |
-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 | Validated |
- Frequency
|
|
+ Africa (AFR)
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
Yoruba
|
Yoruba in Ibadan, Nigeria (YRI) (Aguado et al. 2014) | 4 | 2 | 0.7500 | 0.2500 | > 0.5 |
| Africa (AFR)
|
Africa (AFR) summary | 4 | 2 | 0.7500 | 0.2500 | > 0.5 |
|---|
+ 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) (Aguado et al. 2014) | 49 | 55 | 0.4388 | 0.5612 | > 0.5 |
| Europe (EUR)
|
Europe (EUR) summary | 49 | 55 | 0.4388 | 0.5612 | > 0.5 |
|---|
+ 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) (Aguado et al. 2014) | 1 | 0 | 1.0000 | 0.0000 | NA |
| Japanese
|
Japanese in Tokyo, Japan (JPT) (Aguado et al. 2014) | 1 | 2 | 0.0000 | 1.0000 | NA |
| East Asia (EAS)
|
East Asia (EAS) summary | 2 | 2 | 0.5000 | 0.5000 | > 0.1 |
|---|
+ Unknown
| Population | Sample and Study | Independent individuals | Inverted alleles | Standard frequency | Inverted frequency | HWE p-value |
|---|---|---|---|---|---|---|
| Unknown
|
Unknown (Aguado et al. 2014) | 1 | 2 | 0.0000 | 1.0000 | NA |
| Unknown
|
Unknown summary | 1 | 2 | 0.0000 | 1.0000 | NA |
|---|
+ Breakpoints
| Breakpoint 1 | chr14:34079802-34086813 | Breakpoint 2 | chr14:34094204-34101227 | |||||||||||||
| Study | Martinez-Fundichely et al. 2014 (in preparation) | |||||||||||||||
| Description | Breakpoints defined by comparison with a sequenced fosmid | |||||||||||||||
| Definition method | Manual curation | |||||||||||||||
| Mechanism of origin |
NAHR
|
|||||||||||||||
| Flexibility | 10.73 | GC content | 0.46 | Stability | 1.84 |
| Comments |
Inversion generated by non-allelic homologous recombination (NAHR) between 7.2 kb inverted SDs with almost 100% identity |
|||||||||||||||
|
Sequence features |
||||||||||||||||
Segmental duplications:
| ||||||||||||||||
+ Evolutionary history
| Ancestral allele | NA | Age | ND |
| Derived allele | NA | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Polymorphic | Inverse polymerase chain reaction (iPCR) | Aguado et al. 2014 |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:28
| Breakpoint 1 | chr14:34061584-34082991 | Breakpoint 2 | chr14:34096182-34122127 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:28
| Breakpoint 1 | chr14:34071962-34082991 | Breakpoint 2 | chr14:34096182-34109131 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:28
| Breakpoint 1 | chr14:34079802-34086813 | Breakpoint 2 | chr14:34094204-34101227 |
| Study | Martinez-Fundichely et al. 2014 (in preparation) | ||
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with a sequenced fosmid | ||
| Definition method | Manual curation | ||
- 2015-02-23 10:14:28
| Breakpoint 1 | chr14:34070435-34082991 | Breakpoint 2 | chr14:34096182-34110658 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
Hosted by the Comparative and Functional Genomics group at the Universitat Autònoma de Barcelona
Contact us at invfestdb@uab.cat
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.