| Accession | HsInv0047 | Region of the inversion | chr22:22621523-22633218 |
| Status | Obsolete | Prediction type | Simple |
| Estimated Inversion Size | 9,696 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr22:22621523-22623523 |
| Ancestral orientation | NA | Breakpoint 2 | chr22:22631218-22633218 |
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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 | chr22:22622523-22622523 | Breakpoint 2 | chr22:22632218-22632218 | ||||
| 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 | chr22:22587444-22623780 | Breakpoint 2 | chr22:22630978-22664519 | ||||||||||||||||||||
| D/C Score | -0.33 | Disc. Support Prob. | 0.00202 | ||||||||||||||||||||
| Support | 3 probes  | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr22:22617352-22622870 | Breakpoint 2 | chr22:22659160-22670844 | ||||||||||||||||||||
| D/C Score | -3.63 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 15 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Prediction outside of the current location of the inversion breakpoints Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr22:22621523-22623523 | Breakpoint 2 | chr22:22631218-22633218 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||||
| Definition method | Default informatic definition | ||||
| Mechanism of origin |
ND
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| Flexibility | 10.77 | GC content | 0.42 | Stability | 1.98 |
+ 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
+ Report history
HsInv0047 split into HsInv1114 and HsInv1115
HsInv0047 split into HsInv1114 and HsInv1115
HsInv0047 split into HsInv1114 and HsInv1115
- 2015-02-23 10:14:40
| Breakpoint 1 | chr22:22621523-22623523 | Breakpoint 2 | chr22:22631218-22633218 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:40
| Breakpoint 1 | chr22:22621523-22622870 | Breakpoint 2 | chr22:22631218-22670844 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
