esv3901514
- Organism: Homo sapiens
- Study:estd225 (Magnusson et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:119,692
- Publication(s):Magnusson et al. 2016
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: 862 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 862 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3901514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,789,973 | 50,909,664 |
| esv3901514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 51,017,111 | 51,136,802 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25822393 | copy number loss | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25822393 | Remapped | Perfect | NC_000002.12:g.507 89973_50909664del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,789,973 | 50,909,664 |
| essv25822393 | Submitted genomic | NC_000002.11:g.510 17111_51136802del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 51,017,111 | 51,136,802 |