esv4003
- Organism: Homo sapiens
- Study:estd3 (Wang et al. 2008)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,515
- Publication(s):Wang et al. 2008
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: 564 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 565 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,409,992 | 10,436,506 |
| esv4003 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 10,562,591 | 10,589,105 |
| esv4003 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 10,453,858 | 10,480,372 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv26444 | copy number loss | YH | Sequencing | Read depth and paired-end mapping | 2,682 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26444 | Remapped | Perfect | NC_000012.12:g.(10 409992_?)_(?_10436 506)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,409,992 | 10,436,506 |
| essv26444 | Remapped | Perfect | NC_000012.11:g.(10 562591_?)_(?_10589 105)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,562,591 | 10,589,105 |
| essv26444 | Submitted genomic | NC_000012.10:g.(10 453858_?)_(?_10480 372)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,453,858 | 10,480,372 |