esv3584816
- 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:38,648
- 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: 268 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3584816 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 148,333,518 | 148,372,165 |
| esv3584816 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 149,254,670 | 149,293,317 |
| esv3584816 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 149,474,120 | 149,512,767 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv9838604 | copy number loss | KSF024 | SNP array | Probe signal intensity | 42 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv9838604 | Remapped | Perfect | NC_000004.12:g.(?_ 148333518)_(148372 165_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 148,333,518 | 148,372,165 |
| essv9838604 | Remapped | Perfect | NC_000004.11:g.(?_ 149254670)_(149293 317_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 149,254,670 | 149,293,317 |
| essv9838604 | Submitted genomic | NC_000004.10:g.(?_ 149474120)_(149512 767_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 149,474,120 | 149,512,767 |