esv7497
- Organism: Homo sapiens
- Study:estd19 (Ahn et al. 2009)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,573
- Publication(s):Ahn et al. 2009
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: 389 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv7497 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 11,325,858 | 11,326,520 | 11,328,653 | 11,329,430 |
| esv7497 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | 204,538 | 204,538 | 207,392 | - |
| esv7497 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000024.9 | ChrY | 13,481,534 | 13,482,196 | 13,484,329 | 13,485,106 |
| esv7497 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000024.8 | ChrY | 11,941,534 | 11,942,196 | 11,944,329 | 11,945,106 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv29938 | copy number loss | Sequencing | Read depth and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv29938 | Remapped | Pass | NW_015495300.1:g.( 204538_204538)_(20 7392_?)del | GRCh38.p12 | Second Pass | NW_015495300.1 | Chr4|NW_01 5495300.1 | 204,538 | 204,538 | 207,392 | - |
| essv29938 | Remapped | Perfect | NC_000024.10:g.(11 325858_11326520)_( 11328653_11329430) del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 11,325,858 | 11,326,520 | 11,328,653 | 11,329,430 |
| essv29938 | Remapped | Perfect | NC_000024.9:g.(134 81534_13482196)_(1 3484329_13485106)d el | GRCh37.p13 | First Pass | NC_000024.9 | ChrY | 13,481,534 | 13,482,196 | 13,484,329 | 13,485,106 |
| essv29938 | Submitted genomic | NC_000024.8:g.(119 41534_11942196)_(1 1944329_11945106)d el | NCBI36 (hg18) | NC_000024.8 | ChrY | 11,941,534 | 11,942,196 | 11,944,329 | 11,945,106 |