esv2592824
- 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:1
- Description:originalFile=Yoruban_small_indel.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: 16 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2592824 | Remapped | Perfect | GRCh38.p12 | non-nuclear | First Pass | NC_012920.1 | ChrMT | 11,032 | 11,032 |
| esv2592824 | Remapped | Perfect | GRCh37.p13 | non-nuclear | First Pass | NC_012920.1 | ChrMT | 11,032 | 11,032 |
| esv2592824 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_001807.4 | ChrMT | 11,033 | 11,033 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5334580 | Remapped | Perfect | NC_012920.1:g.1103 2del | GRCh38.p12 | First Pass | NC_012920.1 | ChrMT | 11,032 | 11,032 |
| essv5334580 | Remapped | Perfect | NC_012920.1:g.1103 2del | GRCh37.p13 | First Pass | NC_012920.1 | ChrMT | 11,032 | 11,032 |
| essv5334580 | Submitted genomic | NC_001807.4:g.1103 3del | NCBI36 (hg18) | NC_001807.4 | ChrMT | 11,033 | 11,033 |