esv3072
- 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:49,797
- 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: 460 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 466 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3072 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 52,224,464 | 52,274,260 |
| esv3072 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 53,984,224 | 54,034,020 |
| esv3072 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 53,654,230 | 53,704,026 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv25513 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv25513 | Remapped | Perfect | NC_000010.11:g.(52 224464_?)_(?_52274 260)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 52,224,464 | 52,274,260 |
| essv25513 | Remapped | Perfect | NC_000010.10:g.(53 984224_?)_(?_54034 020)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 53,984,224 | 54,034,020 |
| essv25513 | Submitted genomic | NC_000010.9:g.(536 54230_?)_(?_537040 26)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 53,654,230 | 53,704,026 |