| Accession | HsInv0499 | Region of the inversion | chr8:86745692-86923286 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 115,867 bp | Supporting predictions | 3 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr8:86745692-86800491 |
| Ancestral orientation | NA | Breakpoint 2 | chr8:86854630-86923286 |
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Human Polymorphic Inversion DataBase
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General information
- Region map
+ Predictions
- 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 | chr8:86745692-86760321 | Breakpoint 2 | chr8:86854630-86901507 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 3 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr8:86759515-86795990 | Breakpoint 2 | chr8:86876304-86900283 | ||||||||||||||||||||
| D/C Score | -8.25 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 5 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr8:86759545-86800491 | Breakpoint 2 | chr8:86894468-86923286 | ||||||||||||||||||||
| D/C Score | -7.17 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 6 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | 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 | chr8:86745692-86800491 | Breakpoint 2 | chr8:86854630-86923286 | |||||||||||||||||||||||||||||||||||||||||||||||||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 5.03 | GC content | 0.28 | Stability | 1.01 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr8:86739821-86759711 | 19,891 | chr8:86878021-86901829 | 23,809 | 0.981 | Direct |
| chr8:86739821-86759711 | 19,891 | chr8:86853639-86877725 | 24,087 | 0.980 | Direct |
| chr8:86760391-86763703 | 3,313 | chr8:86867788-86874880 | 7,093 | 0.995 | Direct |
| chr8:86760391-86763703 | 3,313 | chr8:86855597-86862689 | 7,093 | 0.995 | Direct |
| chr8:86760391-86763703 | 3,313 | chr8:86904083-86910893 | 6,811 | 0.958 | Direct |
| chr8:86760391-86763703 | 3,313 | chr8:86891893-86898984 | 7,092 | 0.995 | Direct |
| chr8:86760391-86763703 | 3,313 | chr8:86879979-86886794 | 6,816 | 0.996 | Direct |
+ 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
- 2015-02-23 10:14:57
| Breakpoint 1 | chr8:86759545-86760321 | Breakpoint 2 | chr8:86894468-86900283 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:57
| Breakpoint 1 | chr8:86745692-86800491 | Breakpoint 2 | chr8:86854630-86923286 |
| Assembly | hg18 | ||
| Description | Breakpoints not refined due to lack of overlap of predictions in at least one breakpoint. Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
