esv3310384
- 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: 78 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3310384 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 211,447,325 (-23, +23) | 211,447,325 (-23, +23) |
| esv3310384 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 212,312,050 (-23, +23) | 212,312,050 (-23, +23) |
| esv3310384 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 212,020,295 (-23, +23) | 212,020,295 (-23, +23) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7839729 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv7839729 | Remapped | Perfect | NC_000002.12:g.(21 1447302_211447348) _(211447302_211447 348)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 211,447,325 (-23, +23) | 211,447,325 (-23, +23) |
| essv7839729 | Remapped | Perfect | NC_000002.11:g.(21 2312027_212312073) _(212312027_212312 073)ins? | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 212,312,050 (-23, +23) | 212,312,050 (-23, +23) |
| essv7839729 | Submitted genomic | NC_000002.10:g.(21 2020272_212020318) _(212020272_212020 318)ins? | NCBI36 (hg18) | NC_000002.10 | Chr2 | 212,020,295 (-23, +23) | 212,020,295 (-23, +23) |