esv3892366
- 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:488,728
- 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: 1543 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1543 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 519 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3892366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 64,081,079 | 64,081,079 | 64,569,806 | 64,569,806 |
| esv3892366 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 64,655,212 | 64,655,212 | 65,143,938 | 65,143,938 |
| esv3892366 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 63,553,213 | 63,553,213 | 64,041,939 | 64,041,939 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25779964 | copy number loss | SNP array | Probe signal intensity | 1 |
| essv25782771 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25779964 | Remapped | Perfect | NC_000013.11:g.(?_ 64081079)_(6456980 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 64,081,079 | 64,569,806 |
| essv25782771 | Remapped | Perfect | NC_000013.11:g.(?_ 64081079)_(6456980 6_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 64,081,079 | 64,569,806 |
| essv25779964 | Remapped | Perfect | NC_000013.10:g.(?_ 64655212)_(6514393 8_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,655,212 | 65,143,938 |
| essv25782771 | Remapped | Perfect | NC_000013.10:g.(?_ 64655212)_(6514393 8_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 64,655,212 | 65,143,938 |
| essv25779964 | Submitted genomic | NC_000013.9:g.(?_6 3553213)_(64041939 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,553,213 | 64,041,939 | ||
| essv25782771 | Submitted genomic | NC_000013.9:g.(?_6 3553213)_(64041939 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 63,553,213 | 64,041,939 |