esv4002915
- Organism: Homo sapiens
- Study:estd210 (Blake et al. 2014)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:139,212,692
- Publication(s):Blake et al. 2014
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: 338029 SVs from 154 studies. See in: genome view
Overlapping variant regions from other studies: 337415 SVs from 154 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv4002915 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 22,127,393 | 161,340,084 |
| esv4002915 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 22,350,265 | 162,196,595 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv26058943 | inversion | 10001047_1_1 | Sequencing | Split read and paired-end mapping | essv26058945, essv26058944, essv26058942 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv26058943 | Remapped | Good | NC_000002.12:g.221 27393_161340084inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 22,127,393 | 161,340,084 |
| essv26058943 | Submitted genomic | NC_000002.11:g.223 50265_162196595inv | GRCh37 (hg19) | NC_000002.11 | Chr2 | 22,350,265 | 162,196,595 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv26058943 | 2 | 10001047_1_1 | Sequencing | Sequence alignment | Pass |