esv3310394
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):1000 Genomes Project Consortium 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: 89 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310394 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 73,406,550 (-23, +23) | 73,406,550 (-23, +23) |
| esv3310394 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 74,272,267 (-23, +23) | 74,272,267 (-23, +23) |
| esv3310394 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 74,491,131 (-23, +23) | 74,491,131 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7839716 | mobile element insertion | SAMN00801888 | Sequencing | Split read mapping | 69,298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7839716 | Remapped | Perfect | NC_000004.12:g.(73 406527_73406573)_( 73406527_73406573) ins720 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 73,406,550 (-23, +23) | 73,406,550 (-23, +23) |
| essv7839716 | Remapped | Perfect | NC_000004.11:g.(74 272244_74272290)_( 74272244_74272290) ins720 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 74,272,267 (-23, +23) | 74,272,267 (-23, +23) |
| essv7839716 | Submitted genomic | NC_000004.10:g.(74 491108_74491154)_( 74491108_74491154) ins720 | NCBI36 (hg18) | NC_000004.10 | Chr4 | 74,491,131 (-23, +23) | 74,491,131 (-23, +23) |