esv3891368
- 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:43,196
- 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: 514 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 514 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
esv3891368 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 19,192,301 | 19,197,559 | 19,227,662 | 19,235,496 |
esv3891368 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 19,049,811 | 19,055,069 | 19,085,172 | 19,093,006 |
esv3891368 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 19,094,091 | 19,099,349 | 19,129,452 | 19,137,286 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
essv25781597 | copy number loss | SNP array | Probe signal intensity | 1 |
essv25792454 | copy number gain | SNP array | Probe signal intensity | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
essv25781597 | Remapped | Perfect | NC_000008.11:g.(?_ 19192301)_(1922766 2_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 19,192,301 | 19,227,662 |
essv25792454 | Remapped | Perfect | NC_000008.11:g.(?_ 19197559)_(1923549 6_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 19,197,559 | 19,235,496 |
essv25781597 | Remapped | Perfect | NC_000008.10:g.(?_ 19049811)_(1908517 2_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 19,049,811 | 19,085,172 |
essv25792454 | Remapped | Perfect | NC_000008.10:g.(?_ 19055069)_(1909300 6_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 19,055,069 | 19,093,006 |
essv25781597 | Submitted genomic | NC_000008.9:g.(?_1 9094091)_(19129452 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 19,094,091 | 19,129,452 | ||
essv25792454 | Submitted genomic | NC_000008.9:g.(?_1 9099349)_(19137286 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 19,099,349 | 19,137,286 |