esv3584962
- Organism: Homo sapiens
- Study:estd213 (Mokhtar et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,340
- Publication(s):Mokhtar et al. 2014
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: 218 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3584962 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 170,178,516 | 170,217,855 |
| esv3584962 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 171,035,026 | 171,074,365 |
| esv3584962 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 170,743,272 | 170,782,611 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838607 | copy number gain | KSF005 | SNP array | Probe signal intensity | 45 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838607 | Remapped | Perfect | NC_000002.12:g.(?_ 170178516)_(170217 855_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 170,178,516 | 170,217,855 |
| essv9838607 | Remapped | Perfect | NC_000002.11:g.(?_ 171035026)_(171074 365_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 171,035,026 | 171,074,365 |
| essv9838607 | Submitted genomic | NC_000002.10:g.(?_ 170743272)_(170782 611_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 170,743,272 | 170,782,611 |