esv2754217
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:311,287
- Publication(s):Pinto et al. 2007
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: 1481 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1481 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 49 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2754217 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 103,265,324 | 103,576,610 |
| esv2754217 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 103,713,199 | 104,024,485 |
| esv2754217 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 103,819,892 | 104,131,178 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6989725 | copy number loss | BEC_537 | SNP array | SNP genotyping analysis | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6989725 | Remapped | Perfect | NC_000006.12:g.(?_ 103265324)_(103576 610_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 103,265,324 | 103,576,610 |
| essv6989725 | Remapped | Perfect | NC_000006.11:g.(?_ 103713199)_(104024 485_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 103,713,199 | 104,024,485 |
| essv6989725 | Submitted genomic | NC_000006.9:g.(?_1 03819892)_(1041311 78_?)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 103,819,892 | 104,131,178 |