esv3310396
- 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: 231 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 13 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3310396 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,530,479 (-23, +23) | 23,530,479 (-23, +23) |
esv3310396 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 23,872,666 (-23, +23) | 23,872,666 (-23, +23) |
esv3310396 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 22,202,666 (-23, +23) | 22,202,666 (-23, +23) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv7839513 | 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 |
---|---|---|---|---|---|---|---|---|---|
essv7839513 | Remapped | Perfect | NC_000022.11:g.(23 530456_23530502)_( 23530456_23530502) ins305 | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,530,479 (-23, +23) | 23,530,479 (-23, +23) |
essv7839513 | Remapped | Perfect | NC_000022.10:g.(23 872643_23872689)_( 23872643_23872689) ins305 | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 23,872,666 (-23, +23) | 23,872,666 (-23, +23) |
essv7839513 | Submitted genomic | NC_000022.9:g.(222 02643_22202689)_(2 2202643_22202689)i ns305 | NCBI36 (hg18) | NC_000022.9 | Chr22 | 22,202,666 (-23, +23) | 22,202,666 (-23, +23) |