esv3762064
- 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:354,339
- Description:
Chr12:g.(78231066_78231086)_(77876748_77876768)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: 860 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 860 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3762064 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 77,482,968 | 77,482,988 | 77,837,286 | 77,837,306 |
| esv3762064 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 77,876,748 | 77,876,768 | 78,231,066 | 78,231,086 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16585851 | tandem duplication | 2196360 | Curated | Curated | 396 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16585851 | Remapped | Perfect | NC_000012.12:g.(77 482968_77482988)_( 77837286_77837306) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 77,482,968 | 77,482,988 | 77,837,286 | 77,837,306 |
| essv16585851 | Submitted genomic | NC_000012.11:g.(77 876748_77876768)_( 78231066_78231086) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 77,876,748 | 77,876,768 | 78,231,066 | 78,231,086 |