| Accession | HsInv0019 | Region of the inversion | chr11:49692128-49707324 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 14,572 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Inverts a region within an intron of a gene | Breakpoint 1 | chr11:49692128-49693253 |
| Ancestral orientation | Standard | Breakpoint 2 | chr11:49707200-49707324 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
| Description | Sequencing and analysis of the independently assembled diploid J. Craig Venter genome (HuRef) | ||||||||||||||
| Method | Genome sequence comparison | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr11:49693128-49693128 | Breakpoint 2 | chr11:49706324-49706324 | ||||
| Individuals |
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- 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 | chr11:49672644-49693253 | Breakpoint 2 | chr11:49707200-49726720 | ||||||||||||||||||||
| D/C Score | 0.59 | Disc. Support Prob. | 0.99592 | ||||||||||||||||||||
| Support | 46 probes  | ||||||||||||||||||||||
| Individuals |
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+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr11:49692128-49693253 | Breakpoint 2 | chr11:49707200-49707324 | ||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 11.6 | GC content | 0.33 | Stability | 1.76 |
+ Evolutionary history
| Ancestral allele | Standard | Age | ND |
| Derived allele | Inverted | Origin | ND |
+ Orientation in other species
| Species | Orientation | Method | Study |
| Chimpanzee | Standard | INVFEST curation | |
| Rhesus macaque | Standard | INVFEST curation |
+ Age
Not defined
+ Origin
Not defined
+ Functional effects
| Gene position | chr11:49536655-49788545 |
| Mechanism | Inverts a region within an intron of a gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:26
| Breakpoint 1 | chr11:49692128-49693253 | Breakpoint 2 | chr11:49707200-49707324 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
