esv3794766
- 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:45,054,885
- Description:Chr1:g.(46506999_46507019)_(921843_921863)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: 136658 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 137016 SVs from 148 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3794766 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 986,463 | 986,463 | 46,041,347 | 46,041,347 |
| esv3794766 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 921,843 | 921,863 | 46,506,999 | 46,507,019 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16622247 | tandem duplication | 2196248 | Curated | Curated | 309 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16622247 | Remapped | Good | NC_000001.11:g.(98 6463_986463)_(4604 1347_46041347)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 986,463 | 986,463 | 46,041,347 | 46,041,347 |
| essv16622247 | Submitted genomic | NC_000001.10:g.(92 1843_921863)_(4650 6999_46507019)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 921,843 | 921,863 | 46,506,999 | 46,507,019 |