esv3893624
- Organism: Homo sapiens
- Study:estd224 (Suktitipat 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:362,297
- Publication(s):Suktitipat 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: 1707 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1707 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 559 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3893624 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 2,417,636 | 2,417,636 | 2,779,932 | 2,779,932 |
| esv3893624 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 2,459,320 | 2,459,320 | 2,821,616 | 2,821,616 |
| esv3893624 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 2,434,320 | 2,434,320 | 2,796,616 | 2,796,616 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25778818 | copy number loss | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv25778818 | Remapped | Perfect | NC_000003.12:g.(?_ 2417636)_(2779932_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 2,417,636 | 2,779,932 |
| essv25778818 | Remapped | Perfect | NC_000003.11:g.(?_ 2459320)_(2821616_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 2,459,320 | 2,821,616 |
| essv25778818 | Submitted genomic | NC_000003.10:g.(?_ 2434320)_(2796616_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 2,434,320 | 2,796,616 |