| Accession | HsInv0590 | Region of the inversion | chr21:34913096-34983220 |
| Status | False | Prediction type | Simple |
| Estimated Inversion Size | 35,368 bp | Supporting predictions | 2 |
| Inverted allele frequency | NA | Mechanism of origin | NA |
| Functional effect | Intergenic breakpoints | Breakpoint 1 | chr21:34913096-34937649 |
| Ancestral orientation | NA | Breakpoint 2 | chr21:34938259-34983220 |
| Comments | False inversion prediction caused by error during fosmid paired-end sequencing
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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 | chr21:34913096-34937649 | Breakpoint 2 | chr21:34938259-34976368 | ||||||||||||||||||||
| D/C Score | NA | Disc. Support Prob. | 0.99509 | ||||||||||||||||||||
| Support | 3 probes  | ||||||||||||||||||||||
| Individuals |
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| Comments | Analysis of fosmids supporting the inversion indicates that all of them have one end-read mapping in same region caused probably by misspriming of sequencing primer inside the fosmid | ||||||||||||||||||||||
| Name | |||||||||||||||||||||||
| Breakpoint 1 | chr21:34931394-34937648 | Breakpoint 2 | chr21:34956557-34983220 | ||||||||||||||||||||
| D/C Score | -2.19 | Disc. Support Prob. | 0 | ||||||||||||||||||||
| Support | 2 probes | ||||||||||||||||||||||
| Individuals |
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| Comments | Analysis of fosmids supporting the inversion indicates that all of them have one end-read mapping in same region caused probably by misspriming of sequencing primer inside the fosmid. Below the threshold of the Discordant/Concordant (D/C) ratio score. Below the threshold of the Discordant Support (DS) probability | ||||||||||||||||||||||
+ Validation and genotyping
-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 | Fosmid sequence analysis |
| Status | False |
| Comment | Analysis of AC229894.3 fosmid sequence indicates that the whole fosmid maps continuously and with high identity to HG18, and that the PEM Rev read maps internally within the fosmid, probably due to misspriming during sequencing |
+ Frequency
No frequency studied
+ Breakpoints
| Breakpoint 1 | chr21:34913096-34937649 | Breakpoint 2 | chr21:34938259-34983220 | ||
| 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 |
NA
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| Flexibility | 11.25 | GC content | 0.32 | Stability | 1.84 |
+ 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 10:14:40
| Breakpoint 1 | chr21:34913096-34937649 | Breakpoint 2 | chr21:34938259-34983220 |
| 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 | ||
- 2015-02-23 10:14:40
| Breakpoint 1 | chr21:34931394-34937648 | Breakpoint 2 | chr21:34956557-34976368 |
| Assembly | hg18 | ||
| Definition method | Default informatic definition | ||
