esv3310450
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- 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: 65 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 14 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310450 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 25,529,504 | 25,529,504 | 25,529,504 | 25,529,504 |
| esv3310450 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 25,855,995 | 25,855,995 | 25,855,995 | 25,855,995 |
| esv3310450 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 25,728,582 | 25,728,582 | 25,728,582 | 25,728,582 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843644 | novel sequence insertion | SAMN00001695 | Sequencing | de novo sequence assembly | 37,049 |
| essv7843645 | novel sequence insertion | SAMN00001696 | Sequencing | de novo sequence assembly | 44,056 |
| essv7843646 | novel sequence insertion | SAMN00001694 | Sequencing | de novo sequence assembly | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7843644 | Remapped | Perfect | NC_000001.11:g.255 29504_25529505ins6 50 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,529,504 | 25,529,504 |
| essv7843645 | Remapped | Perfect | NC_000001.11:g.255 29504_25529505ins6 50 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,529,504 | 25,529,504 |
| essv7843646 | Remapped | Perfect | NC_000001.11:g.255 29504_25529505ins6 50 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 25,529,504 | 25,529,504 |
| essv7843644 | Remapped | Perfect | NC_000001.10:g.258 55995_25855996ins6 50 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,855,995 | 25,855,995 |
| essv7843645 | Remapped | Perfect | NC_000001.10:g.258 55995_25855996ins6 50 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,855,995 | 25,855,995 |
| essv7843646 | Remapped | Perfect | NC_000001.10:g.258 55995_25855996ins6 50 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 25,855,995 | 25,855,995 |
| essv7843644 | Submitted genomic | NC_000001.9:g.2572 8582_25728583ins65 0 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 25,728,582 | 25,728,582 | ||
| essv7843645 | Submitted genomic | NC_000001.9:g.2572 8582_25728583ins65 0 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 25,728,582 | 25,728,582 | ||
| essv7843646 | Submitted genomic | NC_000001.9:g.2572 8582_25728583ins65 0 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 25,728,582 | 25,728,582 |