esv1004567
- Organism: Homo sapiens
- Study:estd180 (Pang et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:33,985
- Publication(s):Pang 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: 262 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
esv1004567 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 132,393,004 | 132,426,988 |
esv1004567 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 133,405,251 | 133,439,235 |
esv1004567 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 133,474,433 | 133,508,417 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
essv3564228 | Remapped | Perfect | NC_000008.11:g.(13 2393004_?)_(?_1324 26988)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 132,393,004 | 132,426,988 |
essv3564228 | Remapped | Perfect | NC_000008.10:g.(13 3405251_?)_(?_1334 39235)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 133,405,251 | 133,439,235 |
essv3564228 | Submitted genomic | NC_000008.9:g.(133 474433_?)_(?_13350 8417)del10426 | NCBI36 (hg18) | NC_000008.9 | Chr8 | 133,474,433 | 133,508,417 |