esv34238
- Organism: Homo sapiens
- Study:estd55 (Pinto et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:312,944
- Description:Sample level SV from stringent call set
- 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: 847 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 847 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34238 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 84,649,707 | 84,962,650 |
| esv34238 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 84,279,023 | 84,591,966 |
| esv34238 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 83,923,674 | 84,236,617 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6980397 | copy number loss | NA10831 | SNP array | SNP genotyping analysis | 24 |
| essv6989173 | copy number loss | NA10831 | SNP array | SNP genotyping analysis | 24 |
| essv6987784 | copy number loss | NA10831 | SNP array | SNP genotyping analysis | 24 |
| essv6980398 | copy number loss | NA10831 | SNP array | SNP genotyping analysis | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6980397 | Remapped | Perfect | NC_000007.14:g.(?_ 84649707)_(8496265 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 84,649,707 | 84,962,650 |
| essv6989173 | Remapped | Perfect | NC_000007.14:g.(?_ 84651533)_(8496265 0_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 84,651,533 | 84,962,650 |
| essv6987784 | Remapped | Perfect | NC_000007.14:g.(?_ 84673533)_(8485163 3_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 84,673,533 | 84,851,633 |
| essv6980398 | Remapped | Perfect | NC_000007.14:g.(?_ 84673561)_(8489069 6_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 84,673,561 | 84,890,696 |
| essv6980397 | Remapped | Perfect | NC_000007.13:g.(?_ 84279023)_(8459196 6_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 84,279,023 | 84,591,966 |
| essv6989173 | Remapped | Perfect | NC_000007.13:g.(?_ 84280849)_(8459196 6_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 84,280,849 | 84,591,966 |
| essv6987784 | Remapped | Perfect | NC_000007.13:g.(?_ 84302849)_(8448094 9_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 84,302,849 | 84,480,949 |
| essv6980398 | Remapped | Perfect | NC_000007.13:g.(?_ 84302877)_(8452001 2_?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 84,302,877 | 84,520,012 |
| essv6980397 | Submitted genomic | NC_000007.11:g.(?_ 83923674)_(8423661 7_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 83,923,674 | 84,236,617 | ||
| essv6989173 | Submitted genomic | NC_000007.11:g.(?_ 83925500)_(8423661 7_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 83,925,500 | 84,236,617 | ||
| essv6987784 | Submitted genomic | NC_000007.11:g.(?_ 83947500)_(8412560 0_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 83,947,500 | 84,125,600 | ||
| essv6980398 | Submitted genomic | NC_000007.11:g.(?_ 83947528)_(8416466 3_?)del | NCBI35 (hg17) | NC_000007.11 | Chr7 | 83,947,528 | 84,164,663 |