esv3302671
- 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:35,516
- 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: 152 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 48 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3302671 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 75,550,526 (-100, +100) | 75,586,041 (-100, +100) |
| esv3302671 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 75,777,652 (-100, +100) | 75,813,167 (-100, +100) |
| esv3302671 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 75,631,160 (-100, +100) | 75,666,675 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7730966 | tandem duplication | SAMN00001694 | Sequencing | Paired-end mapping | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv7730966 | Remapped | Perfect | NC_000002.12:g.(75 550427_75550627)_( 75585941_75586141) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 75,550,527 (-100, +100) | 75,586,041 (-100, +100) |
| essv7730966 | Remapped | Perfect | NC_000002.11:g.(75 777553_75777753)_( 75813067_75813267) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 75,777,653 (-100, +100) | 75,813,167 (-100, +100) |
| essv7730966 | Submitted genomic | NC_000002.10:g.(75 631061_75631261)_( 75666575_75666775) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 75,631,161 (-100, +100) | 75,666,675 (-100, +100) |