esv3901151
- Organism: Homo sapiens
- Study:estd225 (Magnusson et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,025
- 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: 445 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 445 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3901151 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,760,599 | 32,814,623 |
| esv3901151 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 32,985,666 | 33,039,690 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25822066 | copy number gain | SNP array | SNP genotyping analysis | 3 |
| essv25822067 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25822066 | Remapped | Perfect | NC_000002.12:g.327 60599_32814623dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,760,599 | 32,814,623 |
| essv25822067 | Remapped | Perfect | NC_000002.12:g.327 60599_32814623dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,760,599 | 32,814,623 |
| essv25822066 | Submitted genomic | NC_000002.11:g.329 85666_33039690dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,985,666 | 33,039,690 | ||
| essv25822067 | Submitted genomic | NC_000002.11:g.329 85666_33039690dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,985,666 | 33,039,690 |