esv3890960
- 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:286,910
- 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: 653 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 653 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3890960 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 144,510,219 | 144,510,219 | 144,797,128 | 144,797,128 |
| esv3890960 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 144,831,355 | 144,831,355 | 145,118,264 | 145,118,264 |
| esv3890960 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 144,873,048 | 144,873,048 | 145,159,957 | 145,159,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| essv25780233 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25780233 | Remapped | Perfect | NC_000006.12:g.(?_ 144510219)_(144797 128_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 144,510,219 | 144,797,128 |
| essv25780233 | Remapped | Perfect | NC_000006.11:g.(?_ 144831355)_(145118 264_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 144,831,355 | 145,118,264 |
| essv25780233 | Submitted genomic | NC_000006.10:g.(?_ 144873048)_(145159 957_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 144,873,048 | 145,159,957 |