esv3584808
- 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:402,726
- 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: 1052 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1053 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 266 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 93,235,451 | 93,638,176 |
| esv3584808 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 94,156,602 | 94,559,327 |
| esv3584808 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 94,375,625 | 94,778,350 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9837909 | copy number loss | KSF008 | SNP array | Probe signal intensity | 54 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9837909 | Remapped | Perfect | NC_000004.12:g.(?_ 93235451)_(9363817 6_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 93,235,451 | 93,638,176 |
| essv9837909 | Remapped | Perfect | NC_000004.11:g.(?_ 94156602)_(9455932 7_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 94,156,602 | 94,559,327 |
| essv9837909 | Submitted genomic | NC_000004.10:g.(?_ 94375625)_(9477835 0_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 94,375,625 | 94,778,350 |