| Accession | HsInv0759 | Region of the inversion | chr13:51803751-51975058 |
| Status | Predicted | Prediction type | Simple |
| Estimated Inversion Size | 137,652 bp | Supporting predictions | 4 |
| Inverted allele frequency | ND | Mechanism of origin | ND |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr13:51803751-51826238 |
| Ancestral orientation | NA | Breakpoint 2 | chr13:51930233-51975058 |
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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 | chr13:51773840-51781753 | Breakpoint 2 | chr13:51983636-51986342 | ||||||||||||||||||||
| D/C Score | -4.53 | Disc. Support Prob. | 0.00003 | ||||||||||||||||||||
| Support | 11 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 | chr13:51803751-51826238 | Breakpoint 2 | chr13:51930233-51975058 | ||||||||||||||||||||
| D/C Score | -0.59 | Disc. Support Prob. | 0.00872 | ||||||||||||||||||||
| Support | 2 probes | ||||||||||||||||||||||
| Individuals |
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| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr13:51710926-51749716 | Breakpoint 2 | chr13:51992905-52037720 | ||||||||||||||||||||
| D/C Score | 0 | Disc. Support Prob. | 0.00001 | ||||||||||||||||||||
| Support | 3 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr13:51770244-51773131 | Breakpoint 2 | chr13:51973384-51983829 | ||||||||||||||||||||
| D/C Score | -5.67 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 7 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 | chr13:51803751-51826238 | Breakpoint 2 | chr13:51930233-51975058 | |||||||||||||
| Description | Breakpoints calculated without considering unreliable predictions | |||||||||||||||
| Definition method | Default informatic definition | |||||||||||||||
| Mechanism of origin |
ND
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| Flexibility | 11.11 | GC content | 0.43 | Stability | 1.81 |
| Position SD1 | Size (bp) | Position SD2 | Size (bp) | Identity | Relative orientation |
| chr13:51793092-51816145 | 23,054 | chr13:51953654-51974389 | 20,736 | 0.985 | 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 10:14:39
| Breakpoint 1 | chr13:51803751-51826238 | Breakpoint 2 | chr13:51930233-51975058 |
| Assembly | hg18 | ||
| Description | Breakpoints calculated without considering unreliable predictions | ||
| Definition method | Default informatic definition | ||
- 2015-02-23 10:14:39
| Breakpoint 1 | chr13:51770244-51773131 | Breakpoint 2 | chr13:51973384-51983829 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
