esv3310514
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,429
- 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: 147 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 7,519,367 | 7,520,795 | 7,519,367 | 7,520,795 |
| esv3310514 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 7,579,427 | 7,580,855 | 7,579,427 | 7,580,855 |
| esv3310514 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 7,502,014 | 7,503,442 | 7,502,014 | 7,503,442 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843513 | novel sequence insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843513 | Remapped | Perfect | NC_000001.11:g.(75 19367_7520795)_(75 19367_7520795)ins1 408 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 7,519,367 | 7,520,795 | 7,519,367 | 7,520,795 |
| essv7843513 | Remapped | Perfect | NC_000001.10:g.(75 79427_7580855)_(75 79427_7580855)ins1 408 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 7,579,427 | 7,580,855 | 7,579,427 | 7,580,855 |
| essv7843513 | Submitted genomic | NC_000001.9:g.(750 2014_7503442)_(750 2014_7503442)ins14 08 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 7,502,014 | 7,503,442 | 7,502,014 | 7,503,442 |