esv274907
- 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:4,975
- 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: 130 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 40 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv274907 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 63,297,752 | 63,297,967 | 63,297,982 | 63,302,726 |
| esv274907 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 63,524,887 | 63,525,102 | 63,525,117 | 63,529,861 |
| esv274907 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 63,378,391 | 63,378,606 | 63,378,621 | 63,383,365 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv2586026 | copy number loss | SNP array | Other |
| essv2586183 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv2586026 | Remapped | Perfect | NC_000002.12:g.(63 297752_63297967)_( 63297982_63302726) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 63,297,752 | 63,297,967 | 63,297,982 | 63,302,726 |
| essv2586183 | Remapped | Perfect | NC_000002.12:g.(63 297752_63297967)_( 63297982_63302726) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 63,297,752 | 63,297,967 | 63,297,982 | 63,302,726 |
| essv2586026 | Remapped | Perfect | NC_000002.11:g.(63 524887_63525102)_( 63525117_63529861) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 63,524,887 | 63,525,102 | 63,525,117 | 63,529,861 |
| essv2586183 | Remapped | Perfect | NC_000002.11:g.(63 524887_63525102)_( 63525117_63529861) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 63,524,887 | 63,525,102 | 63,525,117 | 63,529,861 |
| essv2586026 | Submitted genomic | NC_000002.10:g.(63 378391_63378606)_( 63378621_63383365) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 63,378,391 | 63,378,606 | 63,378,621 | 63,383,365 | ||
| essv2586183 | Submitted genomic | NC_000002.10:g.(63 378391_63378606)_( 63378621_63383365) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 63,378,391 | 63,378,606 | 63,378,621 | 63,383,365 |