| Accession | HsInv0050 | Region of the inversion | chr3:50899680-50910726 |
| Status | Validated | Prediction type | Simple |
| Estimated Inversion Size | 10,370 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr3:50899680-50900357 |
| Ancestral orientation | Inverted | Breakpoint 2 | chr3:50910049-50910726 |
| Comments | False inversion prediction caused by HG18 assembly error that has been corrected in HG19
|
||
|
|
 |
|
|
Human Polymorphic Inversion DataBase
|
General information
- Region map
+ Predictions
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||||||||||||||||||||||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||||||||||||||||||||||
| Name | |||||||||
| Breakpoint 1 | chr3:50899490-50899490 | Breakpoint 2 | chr3:50908387-50908387 | ||||||
| Individuals |
| ||||||||
| Name | |||||||||
| Breakpoint 1 | chr3:50901050-50901050 | Breakpoint 2 | chr3:50912558-50912558 | ||||||
| Individuals |
| ||||||||
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr3:50900409-50900409 | Breakpoint 2 | chr3:50910036-50910036 | ||||
| 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 | chr3:50870873-50899941 | Breakpoint 2 | chr3:50910762-50935904 | ||||||||||||||||||||
| D/C Score | 2.12 | Disc. Support Prob. | 1 | ||||||||||||||||||||
| Support | 59 probes  | ||||||||||||||||||||||
| Individuals |
| ||||||||||||||||||||||
| Comments | prediction outside of the current location of the inversion breakpoints | ||||||||||||||||||||||
+ Validation and genotyping
| Description | Paired-end mapping of 3-kb fragments in an African and in a putatively European individual with some predictions validated by PCR, fiber-FISH or comparison with Celera assembly | ||
| Method | Polymerase chain reaction (PCR) |
| Status | Validated |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr3:50899680-50900357 | Breakpoint 2 | chr3:50910049-50910726 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and three sequenced fosmids | ||||
| Definition method | Manual curation | ||||
| Mechanism of origin |
ND
|
||||
| Flexibility | 10.76 | GC content | 0.37 | Stability | 1.83 |
| Comments |
HG18 genome assembly error probably caused by inverted L1PA7 and L1P3 elements 93% identical |
||
+ Evolutionary history
| Ancestral allele | Inverted | Age | ND |
| Derived allele | Standard | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Inverted | INVFEST curation | |
| Rhesus macaque | Inverted | INVFEST curation |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
- DOCK3
| Gene position | chr3:50687675-51396669 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:32
| Breakpoint 1 | chr3:50899409-50899941 | Breakpoint 2 | chr3:50910762-50911036 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:32
| Breakpoint 1 | chr3:50899680-50900357 | Breakpoint 2 | chr3:50910049-50910726 |
| Assembly | hg18 | ||
| Description | Breakpoints defined by comparison with HuRef Human Genome assembly and three sequenced fosmids | ||
| Definition method | Manual curation | ||
Hosted by the Comparative and Functional Genomics group at the Hospital del Mar Research Institute
Contact us at invfestdb@researchmar.net
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.