esv3804710
- 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:249,397
- Description:
Chr22:g.(37551397_37551417)_(37302023_37302043)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: 754 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 754 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3804710 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 36,905,981 | 36,905,981 | 37,155,377 | 37,155,377 |
| esv3804710 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 37,302,023 | 37,302,043 | 37,551,397 | 37,551,417 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16633350 | tandem duplication | 2121184 | Curated | Curated | 229 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16633350 | Remapped | Good | NC_000022.11:g.(36 905981_36905981)_( 37155377_37155377) dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 36,905,981 | 36,905,981 | 37,155,377 | 37,155,377 |
| essv16633350 | Submitted genomic | NC_000022.10:g.(37 302023_37302043)_( 37551397_37551417) dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 37,302,023 | 37,302,043 | 37,551,397 | 37,551,417 |