esv33977
- Organism: Homo sapiens
- Study:estd24 (de Smith et al. 2007)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:96,689
- Publication(s):de Smith 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: 549 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 549 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv33977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 2,527,169 | 2,623,857 |
| esv33977 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 2,527,403 | 2,624,091 |
| esv33977 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 2,472,402 | 2,569,090 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv94013 | copy number loss | 21802 | Oligo aCGH | Probe signal intensity | 176 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv94013 | Remapped | Perfect | NC_000006.12:g.(23 08253_2527169)_(26 23857_2641171)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 2,308,253 | 2,527,169 | 2,623,857 | 2,641,171 |
| essv94013 | Remapped | Perfect | NC_000006.11:g.(23 08487_2527403)_(26 24091_2641405)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 2,308,487 | 2,527,403 | 2,624,091 | 2,641,405 |
| essv94013 | Submitted genomic | NC_000006.9:g.(225 3486_2472402)_(256 9090_2586404)del | NCBI35 (hg17) | NC_000006.9 | Chr6 | 2,253,486 | 2,472,402 | 2,569,090 | 2,586,404 |