esv9730
- 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:126
- 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: 93 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv9730 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 62,179,563 | 62,179,599 | 62,179,645 | 62,179,688 |
| esv9730 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 61,475,390 | 61,475,426 | 61,475,472 | 61,475,515 |
| esv9730 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 61,511,147 | 61,511,183 | 61,511,229 | 61,511,272 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| essv32171 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv32171 | Remapped | Perfect | NC_000005.10:g.(62 179563_62179599)_( 62179645_62179688) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,179,563 | 62,179,599 | 62,179,645 | 62,179,688 |
| essv32171 | Remapped | Perfect | NC_000005.9:g.(614 75390_61475426)_(6 1475472_61475515)d up | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 61,475,390 | 61,475,426 | 61,475,472 | 61,475,515 |
| essv32171 | Submitted genomic | NC_000005.8:g.(615 11147_61511183)_(6 1511229_61511272)d up | NCBI36 (hg18) | NC_000005.8 | Chr5 | 61,511,147 | 61,511,183 | 61,511,229 | 61,511,272 |