esv34021
- Organism: Homo sapiens
- Study:estd49 (Gusev et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,900
- Publication(s):Gusev et al. 2008
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: 240 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 211 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv34021 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,139,692 | 142,182,591 |
| esv34021 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 101,572 | 144,471 |
| esv34021 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 141,839,492 | 141,882,391 |
| esv34021 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 281,643 | 324,542 |
| esv34021 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 141,485,961 | 141,528,860 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv6990737 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6990737 | Remapped | Perfect | NT_187562.1:g.(?_1 01572)_(144471_?)d el | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 101,572 | 144,471 |
| essv6990737 | Remapped | Perfect | NC_000007.14:g.(?_ 142139692)_(142182 591_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,139,692 | 142,182,591 |
| essv6990737 | Remapped | Perfect | NW_003571040.1:g.( ?_281643)_(324542_ ?)del | GRCh37.p13 | First Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 281,643 | 324,542 |
| essv6990737 | Remapped | Perfect | NC_000007.13:g.(?_ 141839492)_(141882 391_?)del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 141,839,492 | 141,882,391 |
| essv6990737 | Submitted genomic | NC_000007.12:g.(?_ 141485961)_(141528 860_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 141,485,961 | 141,528,860 |