| Accession | HsInv0217 | Region of the inversion | chr4:70115118-70180214 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 54,728 bp | Supporting predictions | 2 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr4:70115118-70126199 |
| Ancestral orientation | NA | Breakpoint 2 | chr4:70170557-70180214 |
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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 an individual genome of African origin | ||||||||||||||
| Method | Paired-end mapping (PEM) | ||||||||||||||
| Name | |||||||
| Breakpoint 1 | chr4:70120638-70120679 | Breakpoint 2 | chr4:70174653-70176118 | ||||
| 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 | chr4:70093127-70139817 | Breakpoint 2 | chr4:70163147-70209837 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 2 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 | chr4:70115118-70126199 | Breakpoint 2 | chr4:70170557-70180214 | |||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 10.97 | GC content | 0.44 | Stability | 1.89 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr4:70070270-70136447 | 66,178 | chr4:70156274-70219147 | 62,874 | 0.953 | 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 10:14:32
| Breakpoint 1 | chr4:70115118-70126199 | Breakpoint 2 | chr4:70170557-70180214 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
