esv3427831
- 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:180
- 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: 72 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 72 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3427831 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 53,220,643 (-51, +51) | 53,220,822 (-51, +51) |
| esv3427831 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 51,837,182 (-51, +51) | 51,837,361 (-51, +51) |
| esv3427831 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 51,270,589 (-51, +51) | 51,270,768 (-51, +51) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8975966 | insertion | SAMN00800947 | Sequencing | Paired-end mapping | 10,286 |
| essv8975967 | insertion | SAMN00001623 | Sequencing | Paired-end mapping | 10,870 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8975966 | Remapped | Perfect | NC_000020.11:g.(53 220592_53220694)_( 53220771_53220873) ins289 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 53,220,643 (-51, +51) | 53,220,822 (-51, +51) |
| essv8975967 | Remapped | Perfect | NC_000020.11:g.(53 220592_53220694)_( 53220771_53220873) ins289 | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 53,220,643 (-51, +51) | 53,220,822 (-51, +51) |
| essv8975966 | Remapped | Perfect | NC_000020.10:g.(51 837131_51837233)_( 51837310_51837412) ins289 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 51,837,182 (-51, +51) | 51,837,361 (-51, +51) |
| essv8975967 | Remapped | Perfect | NC_000020.10:g.(51 837131_51837233)_( 51837310_51837412) ins289 | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 51,837,182 (-51, +51) | 51,837,361 (-51, +51) |
| essv8975966 | Submitted genomic | NC_000020.9:g.(512 70538_51270640)_(5 1270717_51270819)i ns289 | NCBI36 (hg18) | NC_000020.9 | Chr20 | 51,270,589 (-51, +51) | 51,270,768 (-51, +51) | ||
| essv8975967 | Submitted genomic | NC_000020.9:g.(512 70538_51270640)_(5 1270717_51270819)i ns289 | NCBI36 (hg18) | NC_000020.9 | Chr20 | 51,270,589 (-51, +51) | 51,270,768 (-51, +51) |