esv3310409
- 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: 95 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310409 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 91,448,426 (-23, +23) | 91,448,426 (-23, +23) |
| esv3310409 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 91,842,203 (-23, +23) | 91,842,203 (-23, +23) |
| esv3310409 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 90,366,334 (-23, +23) | 90,366,334 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7839173 | mobile element insertion | SAMN00001696 | Sequencing | Split read mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7839173 | Remapped | Perfect | NC_000012.12:g.(91 448403_91448449)_( 91448403_91448449) ins267 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 91,448,426 (-23, +23) | 91,448,426 (-23, +23) |
| essv7839173 | Remapped | Perfect | NC_000012.11:g.(91 842180_91842226)_( 91842180_91842226) ins267 | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 91,842,203 (-23, +23) | 91,842,203 (-23, +23) |
| essv7839173 | Submitted genomic | NC_000012.10:g.(90 366311_90366357)_( 90366311_90366357) ins267 | NCBI36 (hg18) | NC_000012.10 | Chr12 | 90,366,334 (-23, +23) | 90,366,334 (-23, +23) |