esv3429084
- 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:Fail
- Clinical Assertions: No
- Region Size:73,299
- 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: 653 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 654 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3429084 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 49,584,778 (-1000, +1000) | 49,658,076 (-1000, +1000) |
| esv3429084 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 49,586,795 (-1000, +1000) | 49,660,093 (-1000, +1000) |
| esv3429084 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 49,281,552 (-1000, +1000) | 49,354,850 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8694449 | duplication | SAMN00001695 | Sequencing | Read depth | 37,049 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv8694449 | Remapped | Perfect | NC_000004.12:g.(49 583778_49585778)_( 49657076_49659076) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 49,584,778 (-1000, +1000) | 49,658,076 (-1000, +1000) |
| essv8694449 | Remapped | Perfect | NC_000004.11:g.(49 585795_49587795)_( 49659093_49661093) dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 49,586,795 (-1000, +1000) | 49,660,093 (-1000, +1000) |
| essv8694449 | Submitted genomic | NC_000004.10:g.(49 280552_49282552)_( 49353850_49355850) dup73200 | NCBI36 (hg18) | NC_000004.10 | Chr4 | 49,281,552 (-1000, +1000) | 49,354,850 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8694449 | 18 | SAMN00001695 | Oligo aCGH | Probe signal intensity | Fail |