esv3253
- 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:8,272
- 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: 225 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 225 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 11 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3253 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 35,832,226 | 35,840,497 |
| esv3253 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 33,412,190 | 33,420,461 |
| esv3253 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 31,666,188 | 31,674,459 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv25694 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25694 | Remapped | Perfect | NC_000018.10:g.(35 832226_?)_(?_35840 497)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 35,832,226 | 35,840,497 |
| essv25694 | Remapped | Perfect | NC_000018.9:g.(334 12190_?)_(?_334204 61)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 33,412,190 | 33,420,461 |
| essv25694 | Submitted genomic | NC_000018.8:g.(316 66188_?)_(?_316744 59)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 31,666,188 | 31,674,459 |