esv2757223
- Organism: Homo sapiens
- Study:estd1 (Redon et al. 2006)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:113,249
- Publication(s):Redon et al. 2006
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: 511 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 511 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2757223 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 40,344,431 | 40,457,679 |
| esv2757223 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 40,384,030 | 40,497,278 |
| esv2757223 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 40,157,270 | 40,270,518 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv19321 | Remapped | Perfect | NC_000007.14:g.(40 344431_40359594)_( 40440124_40457679) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 40,344,431 | 40,359,594 | 40,440,124 | 40,457,679 |
| essv19321 | Remapped | Perfect | NC_000007.13:g.(40 384030_40399193)_( 40479723_40497278) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 40,384,030 | 40,399,193 | 40,479,723 | 40,497,278 |
| essv19321 | Submitted genomic | NC_000007.11:g.(40 157270_40172433)_( 40252963_40270518) dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 40,157,270 | 40,172,433 | 40,252,963 | 40,270,518 |