esv3310392
- 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: 385 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310392 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 186,172,317 (-23, +23) | 186,172,317 (-23, +23) |
| esv3310392 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 187,093,471 (-23, +23) | 187,093,471 (-23, +23) |
| esv3310392 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 187,330,465 (-23, +23) | 187,330,465 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7839722 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7839722 | Remapped | Perfect | NC_000004.12:g.(18 6172294_186172340) _(186172294_186172 340)ins? | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,172,317 (-23, +23) | 186,172,317 (-23, +23) |
| essv7839722 | Remapped | Perfect | NC_000004.11:g.(18 7093448_187093494) _(187093448_187093 494)ins? | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 187,093,471 (-23, +23) | 187,093,471 (-23, +23) |
| essv7839722 | Submitted genomic | NC_000004.10:g.(18 7330442_187330488) _(187330442_187330 488)ins? | NCBI36 (hg18) | NC_000004.10 | Chr4 | 187,330,465 (-23, +23) | 187,330,465 (-23, +23) |