esv2754315
- 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:312,001
- 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: 938 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 938 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2754315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 112,724,595 | 113,036,595 |
| esv2754315 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 113,736,824 | 114,048,824 |
| esv2754315 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 113,806,000 | 114,118,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6984356 | copy number gain | BEC_693 | SNP array | SNP genotyping analysis | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6984356 | Remapped | Perfect | NC_000008.11:g.(?_ 112724595)_(113036 595_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 112,724,595 | 113,036,595 |
| essv6984356 | Remapped | Perfect | NC_000008.10:g.(?_ 113736824)_(114048 824_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 113,736,824 | 114,048,824 |
| essv6984356 | Submitted genomic | NC_000008.9:g.(?_1 13806000)_(1141180 00_?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 113,806,000 | 114,118,000 |