esv3302820
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,471
- 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: 216 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302820 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 64,716,505 (-100, +100) | 64,741,975 (-100, +100) |
| esv3302820 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 65,290,637 (-100, +100) | 65,316,107 (-100, +100) |
| esv3302820 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 64,188,638 (-100, +100) | 64,214,108 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7733274 | tandem duplication | SAMN00001647 | Sequencing | Paired-end mapping | 26,594 |
| essv7736845 | tandem duplication | SAMN00001619 | Sequencing | Paired-end mapping | 14,368 |
| essv7737837 | tandem duplication | SAMN00001603 | Sequencing | Paired-end mapping | 13,918 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7733274 | Remapped | Perfect | NC_000013.11:g.(64 716406_64716606)_( 64741875_64742075) dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 64,716,406 | 64,716,606 | 64,741,875 | 64,742,075 |
| essv7736845 | Remapped | Perfect | NC_000013.11:g.(64 716406_64716606)_( 64741875_64742075) dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 64,716,406 | 64,716,606 | 64,741,875 | 64,742,075 |
| essv7737837 | Remapped | Perfect | NC_000013.11:g.(64 716406_64716606)_( 64741875_64742075) dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 64,716,406 | 64,716,606 | 64,741,875 | 64,742,075 |
| essv7733274 | Remapped | Perfect | NC_000013.10:g.(65 290538_65290738)_( 65316007_65316207) dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 65,290,538 | 65,290,738 | 65,316,007 | 65,316,207 |
| essv7736845 | Remapped | Perfect | NC_000013.10:g.(65 290538_65290738)_( 65316007_65316207) dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 65,290,538 | 65,290,738 | 65,316,007 | 65,316,207 |
| essv7737837 | Remapped | Perfect | NC_000013.10:g.(65 290538_65290738)_( 65316007_65316207) dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 65,290,538 | 65,290,738 | 65,316,007 | 65,316,207 |
| essv7733274 | Submitted genomic | NC_000013.9:g.(641 88539_64188739)_(6 4214008_64214208)d up | NCBI36 (hg18) | NC_000013.9 | Chr13 | 64,188,539 | 64,188,739 | 64,214,008 | 64,214,208 | ||
| essv7736845 | Submitted genomic | NC_000013.9:g.(641 88539_64188739)_(6 4214008_64214208)d up | NCBI36 (hg18) | NC_000013.9 | Chr13 | 64,188,539 | 64,188,739 | 64,214,008 | 64,214,208 | ||
| essv7737837 | Submitted genomic | NC_000013.9:g.(641 88539_64188739)_(6 4214008_64214208)d up | NCBI36 (hg18) | NC_000013.9 | Chr13 | 64,188,539 | 64,188,739 | 64,214,008 | 64,214,208 |