esv275418
- 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:11,095
- 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: 148 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv275418 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 65,773,874 | 65,781,076 | 65,781,398 | 65,784,968 |
| esv275418 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 66,167,654 | 66,174,856 | 66,175,178 | 66,178,748 |
| esv275418 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 64,453,921 | 64,461,123 | 64,461,445 | 64,465,015 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2585835 | copy number gain | SNP array | Other |
| essv2585924 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2585835 | Remapped | Perfect | NC_000012.12:g.(65 773874_65781076)_( 65781398_65784968) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 65,773,874 | 65,781,076 | 65,781,398 | 65,784,968 |
| essv2585924 | Remapped | Perfect | NC_000012.12:g.(65 773874_65781076)_( 65781398_65784968) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 65,773,874 | 65,781,076 | 65,781,398 | 65,784,968 |
| essv2585835 | Remapped | Perfect | NC_000012.11:g.(66 167654_66174856)_( 66175178_66178748) dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 66,167,654 | 66,174,856 | 66,175,178 | 66,178,748 |
| essv2585924 | Remapped | Perfect | NC_000012.11:g.(66 167654_66174856)_( 66175178_66178748) del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 66,167,654 | 66,174,856 | 66,175,178 | 66,178,748 |
| essv2585835 | Submitted genomic | NC_000012.10:g.(64 453921_64461123)_( 64461445_64465015) dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 64,453,921 | 64,461,123 | 64,461,445 | 64,465,015 | ||
| essv2585924 | Submitted genomic | NC_000012.10:g.(64 453921_64461123)_( 64461445_64465015) del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 64,453,921 | 64,461,123 | 64,461,445 | 64,465,015 |