| Accession | HsInv0693 | Region of the inversion | chr6:26834524-26883334 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 47,778 bp | Supporting predictions | 5 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr6:26834524-26835569 |
| Ancestral orientation | NA | Breakpoint 2 | chr6:26882314-26883334 |
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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 a Korean individual genome | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr6:26834969-26835124 | Breakpoint 2 | chr6:26882734-26882914 | ||||
| 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 | chr6:26773434-26782422 | Breakpoint 2 | chr6:26897612-26907477 | ||||||||||||||||||||
| D/C Score | -1.94 | Disc. Support Prob. | 0.0004 | ||||||||||||||||||||
| Support | 56 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr6:26817358-26831966 | Breakpoint 2 | chr6:26897601-26901359 | ||||||||||||||||||||
| D/C Score | -0.81 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 32 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr6:26834018-26860750 | Breakpoint 2 | chr6:26882994-26898166 | ||||||||||||||||||||
| D/C Score | -0.77 | Disc. Support Prob. | 0.00003 | ||||||||||||||||||||
| Support | 3 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr6:26807415-26810893 | Breakpoint 2 | chr6:26891691-26897679 | ||||||||||||||||||||
| D/C Score | -1.81 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 5 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr6:26834524-26835569 | Breakpoint 2 | chr6:26882314-26883334 | |||||||||||||
| Description | Breakpoints calculated without considering unreliable predictions | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.89 | GC content | 0.28 | Stability | 1.7 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr6:26810366-26849665 | 39,300 | chr6:26868027-26906320 | 38,294 | 0.981 | Inverted |
+ 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
No genes disrupted by the inversion breakpoints
+ Inversion phenotypical effects
Not defined
+ Report history
- 2016-12-09 18:59:43
| Breakpoint 1 | chr6:26834524-26835569 | Breakpoint 2 | chr6:26882314-26883334 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2016-12-09 18:59:43
| Breakpoint 1 | chr6:26807415-26860750 | Breakpoint 2 | chr6:26897601-26897679 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
