esv3891361
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:204,737
- 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: 1074 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1074 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 358 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3891361 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 16,530,356 | 16,611,256 | 16,719,048 | 16,735,092 |
| esv3891361 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 16,387,865 | 16,468,765 | 16,576,557 | 16,592,601 |
| esv3891361 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 16,432,236 | 16,513,136 | 16,620,928 | 16,636,972 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25790163 | copy number gain | SNP array | Probe signal intensity | 3 |
| essv25782652 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25790163 | Remapped | Perfect | NC_000008.11:g.(?_ 16530356)_(1673509 2_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,530,356 | 16,735,092 |
| essv25782652 | Remapped | Perfect | NC_000008.11:g.(?_ 16611256)_(1671904 8_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 16,611,256 | 16,719,048 |
| essv25790163 | Remapped | Perfect | NC_000008.10:g.(?_ 16387865)_(1659260 1_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 16,387,865 | 16,592,601 |
| essv25782652 | Remapped | Perfect | NC_000008.10:g.(?_ 16468765)_(1657655 7_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 16,468,765 | 16,576,557 |
| essv25790163 | Submitted genomic | NC_000008.9:g.(?_1 6432236)_(16636972 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 16,432,236 | 16,636,972 | ||
| essv25782652 | Submitted genomic | NC_000008.9:g.(?_1 6513136)_(16620928 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 16,513,136 | 16,620,928 |