esv3432491
- 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:110,534
- 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: 204 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 817 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv3432491 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 120,179,980 (-1000, +1000) | 120,290,513 (-1000, +1000) |
| esv3432491 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 144,982,095 (-1000, +1000) | 145,094,093 (-1000, +1000) |
| esv3432491 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 143,693,452 (-1000, +1000) | 143,805,450 (-1000, +1000) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv8691922 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| essv8691922 | Remapped | Good | NC_000001.11:g.(12 0178980_120180980) _(120289513_120291 513)dup | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 120,179,980 (-1000, +1000) | 120,290,513 (-1000, +1000) |
| essv8691922 | Remapped | Perfect | NC_000001.10:g.(14 4981095_144983095) _(145093093_145095 093)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 144,982,095 (-1000, +1000) | 145,094,093 (-1000, +1000) |
| essv8691922 | Submitted genomic | NC_000001.9:g.(143 692452_143694452)_ (143804450_1438064 50)dup111900 | NCBI36 (hg18) | NC_000001.9 | Chr1 | 143,693,452 (-1000, +1000) | 143,805,450 (-1000, +1000) |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv8691922 | 18 | SAMN00001694 | Oligo aCGH | Probe signal intensity | Fail |