esv3891839
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:237,951
- 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: 2205 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2205 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 554 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891839 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 66,512,663 | 66,547,056 | 66,665,709 | 66,750,613 |
| esv3891839 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 68,272,421 | 68,306,814 | 68,425,467 | 68,510,371 |
| esv3891839 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 67,942,427 | 67,976,820 | 68,095,473 | 68,180,377 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25799905 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25796128 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25781756 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25785240 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25799905 | Remapped | Perfect | NC_000010.11:g.(?_ 66512663)_(6666980 5_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,512,663 | 66,669,805 |
| essv25796128 | Remapped | Perfect | NC_000010.11:g.(?_ 66518071)_(6666570 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,518,071 | 66,665,709 |
| essv25781756 | Remapped | Perfect | NC_000010.11:g.(?_ 66518071)_(6666575 6_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,518,071 | 66,665,756 |
| essv25785240 | Remapped | Perfect | NC_000010.11:g.(?_ 66547056)_(6675061 3_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 66,547,056 | 66,750,613 |
| essv25799905 | Remapped | Perfect | NC_000010.10:g.(?_ 68272421)_(6842956 3_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 68,272,421 | 68,429,563 |
| essv25796128 | Remapped | Perfect | NC_000010.10:g.(?_ 68277829)_(6842546 7_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 68,277,829 | 68,425,467 |
| essv25781756 | Remapped | Perfect | NC_000010.10:g.(?_ 68277829)_(6842551 4_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 68,277,829 | 68,425,514 |
| essv25785240 | Remapped | Perfect | NC_000010.10:g.(?_ 68306814)_(6851037 1_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 68,306,814 | 68,510,371 |
| essv25799905 | Submitted genomic | NC_000010.9:g.(?_6 7942427)_(68099569 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 67,942,427 | 68,099,569 | ||
| essv25796128 | Submitted genomic | NC_000010.9:g.(?_6 7947835)_(68095473 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 67,947,835 | 68,095,473 | ||
| essv25781756 | Submitted genomic | NC_000010.9:g.(?_6 7947835)_(68095520 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 67,947,835 | 68,095,520 | ||
| essv25785240 | Submitted genomic | NC_000010.9:g.(?_6 7976820)_(68180377 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 67,976,820 | 68,180,377 |