esv3792660
- Organism: Homo sapiens
- Study:estd192 (COSMIC)
- Variant Type:tandem duplication
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:405,536
- Description:
Chr2:g.(50598599_50598619)_(50193084_50193104)dup - 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: 1109 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1109 SVs from 70 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3792660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 49,965,946 | 49,965,966 | 50,371,461 | 50,371,481 |
esv3792660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 50,193,084 | 50,193,104 | 50,598,599 | 50,598,619 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16619888 | tandem duplication | 2185949 | Curated | Curated | 513 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
essv16619888 | Remapped | Perfect | NC_000002.12:g.(49 965946_49965966)_( 50371461_50371481) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 49,965,946 | 49,965,966 | 50,371,461 | 50,371,481 |
essv16619888 | Submitted genomic | NC_000002.11:g.(50 193084_50193104)_( 50598599_50598619) dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 50,193,084 | 50,193,104 | 50,598,599 | 50,598,619 |