esv3427330
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:112
- 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: 124 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3427330 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 167,889,427 (-120, +120) | 167,889,538 (-120, +120) |
| esv3427330 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 167,858,665 (-120, +120) | 167,858,776 (-120, +120) |
| esv3427330 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 166,125,289 (-120, +120) | 166,125,400 (-120, +120) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8673791 | insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
| essv8673792 | insertion | SAMN00001695 | Sequencing | Paired-end mapping | 37,049 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8673791 | Remapped | Perfect | NC_000001.11:g.(16 7889307_167889547) _(167889418_167889 658)ins139 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 167,889,427 (-120, +120) | 167,889,538 (-120, +120) |
| essv8673792 | Remapped | Perfect | NC_000001.11:g.(16 7889307_167889547) _(167889418_167889 658)ins139 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 167,889,427 (-120, +120) | 167,889,538 (-120, +120) |
| essv8673791 | Remapped | Perfect | NC_000001.10:g.(16 7858545_167858785) _(167858656_167858 896)ins139 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 167,858,665 (-120, +120) | 167,858,776 (-120, +120) |
| essv8673792 | Remapped | Perfect | NC_000001.10:g.(16 7858545_167858785) _(167858656_167858 896)ins139 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 167,858,665 (-120, +120) | 167,858,776 (-120, +120) |
| essv8673791 | Submitted genomic | NC_000001.9:g.(166 125169_166125409)_ (166125280_1661255 20)ins139 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 166,125,289 (-120, +120) | 166,125,400 (-120, +120) | ||
| essv8673792 | Submitted genomic | NC_000001.9:g.(166 125169_166125409)_ (166125280_1661255 20)ins139 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 166,125,289 (-120, +120) | 166,125,400 (-120, +120) |