esv2594488
- Organism: Homo sapiens
- Study:estd197 (McKernan 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:13,464
- Description:originalFile=Yoruban_large_indels_8.4x.gff
- Publication(s):McKernan 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: 891 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 891 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2594488 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 158,329,783 | 158,343,197 |
| esv2594488 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 133,978 | 147,441 |
| esv2594488 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,122,475 | 158,135,889 |
| esv2594488 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 157,815,236 | 157,828,650 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5382793 | Remapped | Good | NT_187560.1:g.(133 978_?)_(?_147441)d el | GRCh38.p12 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 133,978 | 147,441 |
| essv5382793 | Remapped | Perfect | NC_000007.14:g.(15 8329783_?)_(?_1583 43197)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 158,329,783 | 158,343,197 |
| essv5382793 | Remapped | Perfect | NC_000007.13:g.(15 8122475_?)_(?_1581 35889)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,122,475 | 158,135,889 |
| essv5382793 | Submitted genomic | NC_000007.12:g.(15 7815236_?)_(?_1578 28650)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 157,815,236 | 157,828,650 |