esv3893956
- Organism: Homo sapiens
- Study:estd224 (Suktitipat et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:411,300
- 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: 1102 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1102 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 273 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3893956 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 106,111,000 | 106,111,000 | 106,522,299 | 106,522,299 |
| esv3893956 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 106,653,622 | 106,653,622 | 107,064,921 | 107,064,921 |
| esv3893956 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 106,455,145 | 106,455,145 | 106,866,444 | 106,866,444 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25779604 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25779604 | Remapped | Perfect | NC_000001.11:g.(?_ 106111000)_(106522 299_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 106,111,000 | 106,522,299 |
| essv25779604 | Remapped | Perfect | NC_000001.10:g.(?_ 106653622)_(107064 921_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 106,653,622 | 107,064,921 |
| essv25779604 | Submitted genomic | NC_000001.9:g.(?_1 06455145)_(1068664 44_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 106,455,145 | 106,866,444 |