esv2667297
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Yes
- Clinical Assertions: No
- Region Size:23,098
- Publication(s):1000 Genomes Project Consortium et al. 2012
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: 533 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 533 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2667297 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| esv2667297 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5415665 | deletion | SAMN00007813 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,240 |
| essv5686922 | deletion | SAMN00007856 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 851 |
| essv5803284 | deletion | SAMN00007803 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,683 |
| essv5894465 | deletion | SAMN00007822 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,310 |
| essv6126677 | deletion | SAMN00007804 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,764 |
| essv6152200 | deletion | SAMN00007818 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,316 |
| essv6266135 | deletion | SAMN00007839 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 821 |
| essv6268218 | deletion | SAMN00007814 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,162 |
| essv6477047 | deletion | SAMN00007806 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,659 |
| essv6547277 | deletion | SAMN00007744 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,376 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5415665 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv5686922 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv5803284 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv5894465 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv6126677 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv6152200 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv6266135 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv6268218 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv6477047 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv6547277 | Remapped | Perfect | NC_000001.11:g.(18 9446515_189446886) _(189469242_189469 612)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,446,515 | 189,446,886 | 189,469,242 | 189,469,612 |
| essv5415665 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv5686922 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv5803284 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv5894465 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv6126677 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv6152200 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv6266135 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv6268218 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv6477047 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 | ||
| essv6547277 | Submitted genomic | NC_000001.10:g.(18 9415645_189416016) _(189438372_189438 742)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 189,415,645 | 189,416,016 | 189,438,372 | 189,438,742 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6547277 | 7 | SAMN00007744 | SNP array | Probe signal intensity | Pass |
| essv5803284 | 7 | SAMN00007803 | SNP array | Probe signal intensity | Pass |
| essv6126677 | 7 | SAMN00007804 | SNP array | Probe signal intensity | Pass |
| essv6477047 | 7 | SAMN00007806 | SNP array | Probe signal intensity | Pass |
| essv5415665 | 7 | SAMN00007813 | SNP array | Probe signal intensity | Pass |
| essv6268218 | 7 | SAMN00007814 | SNP array | Probe signal intensity | Pass |
| essv6152200 | 7 | SAMN00007818 | SNP array | Probe signal intensity | Pass |
| essv5894465 | 7 | SAMN00007822 | SNP array | Probe signal intensity | Pass |
| essv6266135 | 7 | SAMN00007839 | SNP array | Probe signal intensity | Pass |
| essv5686922 | 7 | SAMN00007856 | SNP array | Probe signal intensity | Pass |