esv3814475
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:complex chromosomal rearrangement
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,001
- Description:
chrX:g.(100594330_100596330)_chr6:(50494744_50496744)bkpt - Publication(s):Forbes et al. 2008, Forbes et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 48 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 19 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3814475 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 50,527,031 | 50,529,031 | 50,527,031 | 50,529,031 |
esv3814475 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 101,339,342 | 101,341,342 | 101,339,342 | 101,341,342 |
esv3814475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 50,494,744 | 50,496,744 | 50,494,744 | 50,496,744 | ||
esv3814475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 100,594,330 | 100,596,330 | 100,594,330 | 100,596,330 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16644272 | interchromosomal translocation | 2120210 | Curated | Curated | 47 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16644272 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 50,527,031 | 50,529,031 | 50,527,031 | 50,529,031 | not reported |
essv16644272 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 101,339,342 | 101,341,342 | 101,339,342 | 101,341,342 | not reported |
essv16644272 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 50,494,744 | 50,496,744 | 50,494,744 | 50,496,744 | not reported | ||
essv16644272 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 100,594,330 | 100,596,330 | 100,594,330 | 100,596,330 | not reported |