| Accession | HsInv0483 | Region of the inversion | chr7:143613413-143698960 |
| Status | Unreliable prediction | Prediction type | Simple |
| Estimated Inversion Size | 84,604 bp | Supporting predictions | 1 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Breaks one gene | Breakpoint 1 | chr7:143613413-143614908 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:143698568-143698960 |
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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 | chr7:143613413-143614908 | Breakpoint 2 | chr7:143698568-143698960 | ||||||||||||||||||||
| D/C Score | -6.81 | Disc. Support Prob. | 0.00055 | ||||||||||||||||||||
| Support | 16 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 | chr7:143613413-143614908 | Breakpoint 2 | chr7:143698568-143698960 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.13 | GC content | 0.53 | Stability | 1.99 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr7:143600378-143624214 | 23,837 | chr7:143681414-143705309 | 23,896 | 0.997 | 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
- ARHGEF5
| Gene position | chr7:143683421-143708658 |
| Mechanism | Breaks one gene |
+ Inversion phenotypical effects
Not defined
+ Report history
- 2015-02-23 10:14:56
| Breakpoint 1 | chr7:143613413-143614908 | Breakpoint 2 | chr7:143698568-143698960 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
