esv3310504
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:novel sequence insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,361
- 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: 123 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv3310504 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 64,290,368 | 64,291,728 | 64,290,368 | 64,291,728 |
| esv3310504 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 65,000,261 | 65,001,621 | 65,000,261 | 65,001,621 |
| esv3310504 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 65,058,220 | 65,059,580 | 65,058,220 | 65,059,580 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv7843539 | novel sequence insertion | SAMN00001696 | Sequencing | Paired-end mapping | 44,056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv7843539 | Remapped | Perfect | NC_000006.12:g.(64 290368_64291728)_( 64290368_64291728) ins1349 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 64,290,368 | 64,291,728 | 64,290,368 | 64,291,728 |
| essv7843539 | Remapped | Perfect | NC_000006.11:g.(65 000261_65001621)_( 65000261_65001621) ins1349 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 65,000,261 | 65,001,621 | 65,000,261 | 65,001,621 |
| essv7843539 | Submitted genomic | NC_000006.10:g.(65 058220_65059580)_( 65058220_65059580) ins1349 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 65,058,220 | 65,059,580 | 65,058,220 | 65,059,580 |