esv3303092
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,636
- 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: 151 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3303092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 37,993,844 (-100, +100) | 38,019,479 (-100, +100) |
| esv3303092 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 37,961,620 (-100, +100) | 37,987,255 (-100, +100) |
| esv3303092 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 38,069,598 (-100, +100) | 38,095,233 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7732434 | tandem duplication | SAMN00001609 | Sequencing | Paired-end mapping | 14,604 |
| essv7736791 | tandem duplication | SAMN00001618 | Sequencing | Paired-end mapping | 9,893 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7732434 | Remapped | Perfect | NC_000006.12:g.(37 993745_37993945)_( 38019379_38019579) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 37,993,745 | 37,993,945 | 38,019,379 | 38,019,579 |
| essv7736791 | Remapped | Perfect | NC_000006.12:g.(37 993745_37993945)_( 38019379_38019579) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 37,993,745 | 37,993,945 | 38,019,379 | 38,019,579 |
| essv7732434 | Remapped | Perfect | NC_000006.11:g.(37 961521_37961721)_( 37987155_37987355) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 37,961,521 | 37,961,721 | 37,987,155 | 37,987,355 |
| essv7736791 | Remapped | Perfect | NC_000006.11:g.(37 961521_37961721)_( 37987155_37987355) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 37,961,521 | 37,961,721 | 37,987,155 | 37,987,355 |
| essv7732434 | Submitted genomic | NC_000006.10:g.(38 069499_38069699)_( 38095133_38095333) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,069,499 | 38,069,699 | 38,095,133 | 38,095,333 | ||
| essv7736791 | Submitted genomic | NC_000006.10:g.(38 069499_38069699)_( 38095133_38095333) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,069,499 | 38,069,699 | 38,095,133 | 38,095,333 |