esv3424722
- Organism: Homo sapiens
- Study:estd59 (1000 Genomes Consortium Pilot Project)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Fail
- Clinical Assertions: No
- Region Size:277,786
- 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: 558 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 558 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 229 SVs from 13 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
esv3424722 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
esv3424722 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
esv3424722 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
essv8104465 | deletion | SAMN00001589 | Sequencing | Paired-end mapping | 10,468 |
essv8104466 | deletion | SAMN00801684 | Sequencing | Paired-end mapping | 16,980 |
essv8104467 | deletion | SAMN00001628 | Sequencing | Paired-end mapping | 11,296 |
essv8104468 | deletion | SAMN00800258 | Sequencing | Paired-end mapping | 12,098 |
essv8104469 | deletion | SAMN00801103 | Sequencing | Paired-end mapping | 9,141 |
essv8104470 | deletion | SAMN00001610 | Sequencing | Paired-end mapping | 15,427 |
essv8104471 | deletion | SAMN00801682 | Sequencing | Paired-end mapping | 12,291 |
essv8104472 | deletion | SAMN00801646 | Sequencing | Paired-end mapping | 11,757 |
essv8104473 | deletion | SAMN00001591 | Sequencing | Paired-end mapping | 13,341 |
essv8104475 | deletion | SAMN00001548 | Sequencing | Paired-end mapping | 9,117 |
essv8104476 | deletion | SAMN00001669 | Sequencing | Paired-end mapping | 5,311 |
essv8104477 | deletion | SAMN00001578 | Sequencing | Paired-end mapping | 9,621 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
essv8104465 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104466 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104467 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104468 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104469 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104470 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104471 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104472 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104473 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104475 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104476 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104477 | Remapped | Perfect | NC_000005.10:g.(12 5872150_125872360) _(126149958_126150 178)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 125,872,286 (-136, +74) | 126,150,071 (-113, +107) |
essv8104465 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104466 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104467 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104468 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104469 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104470 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104471 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104472 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104473 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104475 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104476 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104477 | Remapped | Perfect | NC_000005.9:g.(125 207843_125208053)_ (125485651_1254858 71)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,207,979 (-136, +74) | 125,485,764 (-113, +107) |
essv8104465 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104466 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104467 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104468 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104469 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104470 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104471 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104472 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104473 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104475 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104476 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) | ||
essv8104477 | Submitted genomic | NC_000005.8:g.(125 235742_125235952)_ (125513550_1255137 70)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,235,878 (-136, +74) | 125,513,663 (-113, +107) |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
essv8104475 | 36 | SAMN00001548 | Digital array | Other | Fail |
essv8104475 | 38 | SAMN00001548 | Digital array | Other | Fail |
essv8104477 | 36 | SAMN00001578 | Digital array | Other | Fail |
essv8104477 | 38 | SAMN00001578 | Digital array | Other | Fail |
essv8104465 | 36 | SAMN00001589 | Digital array | Other | Fail |
essv8104465 | 38 | SAMN00001589 | Digital array | Other | Fail |
essv8104473 | 36 | SAMN00001591 | Digital array | Other | Fail |
essv8104473 | 38 | SAMN00001591 | Digital array | Other | Fail |
essv8104470 | 36 | SAMN00001610 | Digital array | Other | Fail |
essv8104470 | 38 | SAMN00001610 | Digital array | Other | Fail |
essv8104467 | 36 | SAMN00001628 | Digital array | Other | Fail |
essv8104467 | 38 | SAMN00001628 | Digital array | Other | Fail |
essv8104476 | 36 | SAMN00001669 | Digital array | Other | Fail |
essv8104476 | 38 | SAMN00001669 | Digital array | Other | Fail |
essv8104468 | 36 | SAMN00800258 | Digital array | Other | Fail |
essv8104468 | 38 | SAMN00800258 | Digital array | Other | Fail |
essv8104469 | 36 | SAMN00801103 | Digital array | Other | Fail |
essv8104469 | 38 | SAMN00801103 | Digital array | Other | Fail |
essv8104472 | 36 | SAMN00801646 | Digital array | Other | Fail |
essv8104472 | 38 | SAMN00801646 | Digital array | Other | Fail |
essv8104471 | 36 | SAMN00801682 | Digital array | Other | Fail |
essv8104471 | 38 | SAMN00801682 | Digital array | Other | Fail |
essv8104466 | 36 | SAMN00801684 | Digital array | Other | Fail |
essv8104466 | 38 | SAMN00801684 | Digital array | Other | Fail |