esv3892511
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:229,507
- 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: 870 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 870 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 308 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3892511 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 40,690,593 | 40,709,553 | 40,917,801 | 40,920,099 |
| esv3892511 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 41,159,798 | 41,178,758 | 41,387,006 | 41,389,304 |
| esv3892511 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 40,229,548 | 40,248,508 | 40,456,756 | 40,459,054 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25797542 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25781201 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25799232 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25797542 | Remapped | Perfect | NC_000014.9:g.(?_4 0690593)_(40920099 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 40,690,593 | 40,920,099 |
| essv25781201 | Remapped | Perfect | NC_000014.9:g.(?_4 0709553)_(40917801 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 40,709,553 | 40,917,801 |
| essv25799232 | Remapped | Perfect | NC_000014.9:g.(?_4 0709553)_(40917801 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 40,709,553 | 40,917,801 |
| essv25797542 | Remapped | Perfect | NC_000014.8:g.(?_4 1159798)_(41389304 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,159,798 | 41,389,304 |
| essv25781201 | Remapped | Perfect | NC_000014.8:g.(?_4 1178758)_(41387006 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,178,758 | 41,387,006 |
| essv25799232 | Remapped | Perfect | NC_000014.8:g.(?_4 1178758)_(41387006 _?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,178,758 | 41,387,006 |
| essv25797542 | Submitted genomic | NC_000014.7:g.(?_4 0229548)_(40459054 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,229,548 | 40,459,054 | ||
| essv25781201 | Submitted genomic | NC_000014.7:g.(?_4 0248508)_(40456756 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,248,508 | 40,456,756 | ||
| essv25799232 | Submitted genomic | NC_000014.7:g.(?_4 0248508)_(40456756 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,248,508 | 40,456,756 |