esv2757563
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:114,167
- Publication(s):Redon et al. 2006
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: 505 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 505 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2757563 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 41,297,358 | 41,411,524 |
| esv2757563 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 41,766,561 | 41,880,727 |
| esv2757563 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000014.7 | Chr14 | 40,836,311 | 40,950,477 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv8554 | Remapped | Perfect | NC_000014.9:g.(412 97358_41355179)_(4 1377693_41411524)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,297,358 | 41,355,179 | 41,377,693 | 41,411,524 |
| essv8554 | Remapped | Perfect | NC_000014.8:g.(417 66561_41824382)_(4 1846896_41880727)d el | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,766,561 | 41,824,382 | 41,846,896 | 41,880,727 |
| essv8554 | Submitted genomic | NC_000014.7:g.(408 36311_40894132)_(4 0916646_40950477)d el | NCBI35 (hg17) | NC_000014.7 | Chr14 | 40,836,311 | 40,894,132 | 40,916,646 | 40,950,477 |