esv3302845
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,214
- 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: 221 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302845 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 28,452,903 (-100, +100) | 28,476,116 (-100, +100) |
| esv3302845 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 28,452,901 (-100, +100) | 28,476,114 (-100, +100) |
| esv3302845 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 28,442,901 (-100, +100) | 28,466,114 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7735448 | tandem duplication | SAMN00001644 | Sequencing | Paired-end mapping | 14,069 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7735448 | Remapped | Perfect | NC_000009.12:g.(28 452804_28453004)_( 28476016_28476216) dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 28,452,804 | 28,453,004 | 28,476,016 | 28,476,216 |
| essv7735448 | Remapped | Perfect | NC_000009.11:g.(28 452802_28453002)_( 28476014_28476214) dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 28,452,802 | 28,453,002 | 28,476,014 | 28,476,214 |
| essv7735448 | Submitted genomic | NC_000009.10:g.(28 442802_28443002)_( 28466014_28466214) dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 28,442,802 | 28,443,002 | 28,466,014 | 28,466,214 |