esv2764017
- Organism: Homo sapiens
- Study:estd203 (Vogler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:270,923
- Publication(s):Vogler et al. 2010
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: 1384 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 535 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 1384 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 456 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2764017 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 8,919,330 | 9,190,252 |
| esv2764017 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805493.1 | Chr7|NW_01 9805493.1 | 1 | 170,448 |
| esv2764017 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 8,958,960 | 9,229,882 |
| esv2764017 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 8,925,485 | 9,196,407 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7033374 | copy number loss | SW_1505 | SNP array | SNP genotyping analysis | 24 |
| essv7033375 | copy number loss | SW_0874 | SNP array | SNP genotyping analysis | 26 |
| essv7033376 | copy number loss | SW_1033 | SNP array | SNP genotyping analysis | 33 |
| essv7033377 | copy number loss | SW_1512 | SNP array | SNP genotyping analysis | 36 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7033374 | Remapped | Pass | NW_019805493.1:g.( ?_1)_(133151_?)del | GRCh38.p12 | Second Pass | NW_019805493.1 | Chr7|NW_01 9805493.1 | 1 | 133,151 |
| essv7033375 | Remapped | Perfect | NW_019805493.1:g.( ?_67739)_(170448_? )del | GRCh38.p12 | Second Pass | NW_019805493.1 | Chr7|NW_01 9805493.1 | 67,739 | 170,448 |
| essv7033376 | Remapped | Perfect | NW_019805493.1:g.( ?_67739)_(170448_? )del | GRCh38.p12 | Second Pass | NW_019805493.1 | Chr7|NW_01 9805493.1 | 67,739 | 170,448 |
| essv7033377 | Remapped | Perfect | NW_019805493.1:g.( ?_163235)_(164287_ ?)del | GRCh38.p12 | Second Pass | NW_019805493.1 | Chr7|NW_01 9805493.1 | 163,235 | 164,287 |
| essv7033374 | Remapped | Perfect | NC_000007.14:g.(?_ 8919330)_(9152955_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 8,919,330 | 9,152,955 |
| essv7033375 | Remapped | Perfect | NC_000007.14:g.(?_ 9087543)_(9190252_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 9,087,543 | 9,190,252 |
| essv7033376 | Remapped | Perfect | NC_000007.14:g.(?_ 9087543)_(9190252_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 9,087,543 | 9,190,252 |
| essv7033377 | Remapped | Perfect | NC_000007.14:g.(?_ 9183039)_(9184091_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 9,183,039 | 9,184,091 |
| essv7033374 | Remapped | Perfect | NC_000007.13:g.(?_ 8958960)_(9192585_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 8,958,960 | 9,192,585 |
| essv7033375 | Remapped | Perfect | NC_000007.13:g.(?_ 9127173)_(9229882_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 9,127,173 | 9,229,882 |
| essv7033376 | Remapped | Perfect | NC_000007.13:g.(?_ 9127173)_(9229882_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 9,127,173 | 9,229,882 |
| essv7033377 | Remapped | Perfect | NC_000007.13:g.(?_ 9222669)_(9223721_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 9,222,669 | 9,223,721 |
| essv7033374 | Submitted genomic | NC_000007.12:g.(?_ 8925485)_(9159110_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 8,925,485 | 9,159,110 | ||
| essv7033375 | Submitted genomic | NC_000007.12:g.(?_ 9093698)_(9196407_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 9,093,698 | 9,196,407 | ||
| essv7033376 | Submitted genomic | NC_000007.12:g.(?_ 9093698)_(9196407_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 9,093,698 | 9,196,407 | ||
| essv7033377 | Submitted genomic | NC_000007.12:g.(?_ 9189194)_(9190246_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 9,189,194 | 9,190,246 |