esv3814019
- 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:401
- Description:Chr17:g.o(48789822_48790222)_chr17:(48818334_4
8818734)bkpt - Publication(s):Forbes et al. 2008, Forbes et al. 2008, Stephens et al. 2009
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: 38 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 14 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 | strand |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3814019 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 50,712,461 | 50,712,861 | 50,712,461 | 50,712,861 | - |
| esv3814019 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 50,740,973 | 50,741,373 | 50,740,973 | 50,741,373 | |
| esv3814019 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 48,789,822 | 48,790,222 | 48,789,822 | 48,790,222 | - | ||
| esv3814019 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 48,818,334 | 48,818,734 | 48,818,334 | 48,818,734 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16643764 | intrachromosomal translocation | 1126506 | Curated | Curated | 96 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16643764 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,712,461 | 50,712,861 | 50,712,461 | 50,712,861 | - |
| essv16643764 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 50,740,973 | 50,741,373 | 50,740,973 | 50,741,373 | not reported |
| essv16643764 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,789,822 | 48,790,222 | 48,789,822 | 48,790,222 | - | ||
| essv16643764 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,818,334 | 48,818,734 | 48,818,334 | 48,818,734 | not reported |