esv3689972
- Organism: Homo sapiens
- Study:estd220 (Pettigrew et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:148,242
- Publication(s):Pettigrew et al. 2015
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: 563 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 563 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3689972 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 9,756,765 | 9,761,228 | 9,874,588 | 9,905,006 |
| esv3689972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 9,737,413 | 9,741,876 | 9,855,236 | 9,885,654 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv16504279 | duplication | FR-44 | SNP array | SNP genotyping analysis | 36 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv16504279 | Remapped | Perfect | NC_000020.11:g.(97 56765_9761228)_(98 74588_9905006)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 9,756,765 | 9,761,228 | 9,874,588 | 9,905,006 |
| essv16504279 | Submitted genomic | NC_000020.10:g.(97 37413_9741876)_(98 55236_9885654)dup1 13360 | GRCh37 (hg19) | NC_000020.10 | Chr20 | 9,737,413 | 9,741,876 | 9,855,236 | 9,885,654 |