esv5312
- 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:7,231
- 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: 420 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv5312 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 54,062,909 | 54,070,139 |
| esv5312 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 53,927,707 | 53,934,937 |
| esv5312 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 54,035,666 | 54,042,896 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv27753 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv27753 | Remapped | Perfect | NC_000006.12:g.(54 062909_?)_(?_54070 139)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 54,062,909 | 54,070,139 |
| essv27753 | Remapped | Perfect | NC_000006.11:g.(53 927707_?)_(?_53934 937)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 53,927,707 | 53,934,937 |
| essv27753 | Submitted genomic | NC_000006.10:g.(54 035666_?)_(?_54042 896)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 54,035,666 | 54,042,896 |