esv274995
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,685
- Publication(s):Banerjee et al. 2011
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: 207 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv274995 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 2,748,283 | 2,754,560 | 2,755,024 | 2,758,967 |
| esv274995 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 2,748,517 | 2,754,794 | 2,755,258 | 2,759,201 |
| esv274995 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 2,693,516 | 2,699,793 | 2,700,257 | 2,704,200 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585857 | copy number loss | SNP array | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585857 | Remapped | Perfect | NC_000006.12:g.(27 48283_2754560)_(27 55024_2758967)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 2,748,283 | 2,754,560 | 2,755,024 | 2,758,967 |
| essv2585857 | Remapped | Perfect | NC_000006.11:g.(27 48517_2754794)_(27 55258_2759201)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 2,748,517 | 2,754,794 | 2,755,258 | 2,759,201 |
| essv2585857 | Submitted genomic | NC_000006.10:g.(26 93516_2699793)_(27 00257_2704200)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 2,693,516 | 2,699,793 | 2,700,257 | 2,704,200 |