esv3756087
- 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:389,853
- Description:Chr13:g.104569743_104959595dup
- 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: 1225 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1225 SVs from 72 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3756087 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 103,917,393 | 104,307,245 |
esv3756087 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 104,569,743 | 104,959,595 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv16579176 | tandem duplication | 1126084 | Curated | Curated | 246 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv16579176 | Remapped | Perfect | NC_000013.11:g.103 917393_104307245du p | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 103,917,393 | 104,307,245 |
essv16579176 | Submitted genomic | NC_000013.10:g.104 569743_104959595du p16 | GRCh37 (hg19) | NC_000013.10 | Chr13 | 104,569,743 | 104,959,595 |