| Accession | HsInv0295 | Region of the inversion | chr7:143575721-143631195 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 54,390 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr7:143575721-143576811 |
| Ancestral orientation | NA | Breakpoint 2 | chr7:143630114-143631195 |
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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 | chr7:143576211-143576321 | Breakpoint 2 | chr7:143630595-143630714 | ||||
| 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 | chr7:143565362-143587798 | Breakpoint 2 | chr7:143615660-143648477 | ||||||||||||||||||||
| D/C Score | -3.36 | Disc. Support Prob. | 0.0437 | ||||||||||||||||||||
| Support | 7 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant/Concordant (D/C) ratio score | ||||||||||||||||||||||
+ Validation and genotyping
No validations are found
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr7:143575721-143576811 | Breakpoint 2 | chr7:143630114-143631195 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.03 | GC content | 0.28 | Stability | 1.73 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr7:143514975-143582819 | 67,845 | chr7:143624209-143692130 | 67,922 | 0.998 | 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
- 2015-02-23 10:14:56
| Breakpoint 1 | chr7:143575721-143576811 | Breakpoint 2 | chr7:143630114-143631195 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
