esv3443418
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:68,499
- 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: 1363 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1404 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3443418 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,618,504 (-1000, +1000) | 189,687,002 (-1000, +1000) |
| esv3443418 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 190,539,658 (-1000, +1000) | 190,608,156 (-1000, +1000) |
| esv3443418 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 190,776,652 (-1000, +1000) | 190,845,150 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8694324 | duplication | SAMN00001694 | Sequencing | Read depth | 29,487 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8694324 | Remapped | Perfect | NC_000004.12:g.(18 9617504_189619504) _(189686002_189688 002)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,618,504 (-1000, +1000) | 189,687,002 (-1000, +1000) |
| essv8694324 | Remapped | Perfect | NC_000004.11:g.(19 0538658_190540658) _(190607156_190609 156)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,539,658 (-1000, +1000) | 190,608,156 (-1000, +1000) |
| essv8694324 | Submitted genomic | NC_000004.10:g.(19 0775652_190777652) _(190844150_190846 150)dup68400 | NCBI36 (hg18) | NC_000004.10 | Chr4 | 190,776,652 (-1000, +1000) | 190,845,150 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8694324 | 18 | SAMN00001694 | Oligo aCGH | Probe signal intensity | Pass |