esv3742
- 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:8,425
- 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: 424 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 418 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3742 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 55,151,612 | 55,160,036 |
| esv3742 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 55,178,045 | 55,186,469 |
| esv3742 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 55,194,770 | 55,203,194 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv26183 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv26183 | Remapped | Perfect | NC_000023.11:g.(55 151612_?)_(?_55160 036)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 55,151,612 | 55,160,036 |
| essv26183 | Remapped | Perfect | NC_000023.10:g.(55 178045_?)_(?_55186 469)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 55,178,045 | 55,186,469 |
| essv26183 | Submitted genomic | NC_000023.9:g.(551 94770_?)_(?_552031 94)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 55,194,770 | 55,203,194 |