esv274927
- Organism: Homo sapiens
- Study:estd176 (Banerjee et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:12,601
- 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: 156 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv274927 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 116,742,864 | 116,751,287 | 116,751,528 | 116,755,464 |
| esv274927 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 116,382,918 | 116,391,341 | 116,391,582 | 116,395,518 |
| esv274927 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 116,170,154 | 116,178,577 | 116,178,818 | 116,182,754 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585263 | copy number gain | SNP array | Other |
| essv2586088 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585263 | Remapped | Perfect | NC_000007.14:g.(11 6742864_116751287) _(116751528_116755 464)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 116,742,864 | 116,751,287 | 116,751,528 | 116,755,464 |
| essv2586088 | Remapped | Perfect | NC_000007.14:g.(11 6742864_116751287) _(116751528_116755 464)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 116,742,864 | 116,751,287 | 116,751,528 | 116,755,464 |
| essv2585263 | Remapped | Perfect | NC_000007.13:g.(11 6382918_116391341) _(116391582_116395 518)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 116,382,918 | 116,391,341 | 116,391,582 | 116,395,518 |
| essv2586088 | Remapped | Perfect | NC_000007.13:g.(11 6382918_116391341) _(116391582_116395 518)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 116,382,918 | 116,391,341 | 116,391,582 | 116,395,518 |
| essv2585263 | Submitted genomic | NC_000007.12:g.(11 6170154_116178577) _(116178818_116182 754)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 116,170,154 | 116,178,577 | 116,178,818 | 116,182,754 | ||
| essv2586088 | Submitted genomic | NC_000007.12:g.(11 6170154_116178577) _(116178818_116182 754)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 116,170,154 | 116,178,577 | 116,178,818 | 116,182,754 |