esv2671922
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Yes
- Clinical Assertions: No
- Region Size:15,645
- Description:High quality site
- 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: 146 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2671922 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| esv2671922 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5622021 | deletion | SAMN00000429 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,527 |
| essv5745451 | deletion | SAMN00000517 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,139 |
| essv5814094 | deletion | SAMN00001619 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,363 |
| essv5832069 | deletion | SAMN00001614 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,305 |
| essv6027339 | deletion | SAMN00006425 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,062 |
| essv6030067 | deletion | SAMN00006574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,770 |
| essv6051980 | deletion | SAMN00006541 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,690 |
| essv6085180 | deletion | SAMN00000927 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,263 |
| essv6310018 | deletion | SAMN00000441 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,152 |
| essv6360014 | deletion | SAMN00006447 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,673 |
| essv6394866 | deletion | SAMN00016968 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,037 |
| essv6538757 | deletion | SAMN00006416 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,037 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5622021 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv5745451 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv5814094 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv5832069 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6027339 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6030067 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6051980 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6085180 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6310018 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6360014 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6394866 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv6538757 | Remapped | Perfect | NC_000003.12:g.894 82281_89497925delC | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,482,281 | 89,497,925 |
| essv5622021 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv5745451 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv5814094 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv5832069 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6027339 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6030067 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6051980 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6085180 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6310018 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6360014 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6394866 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 | ||
| essv6538757 | Submitted genomic | NC_000003.11:g.895 31431_89547075delC | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,531,431 | 89,547,075 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5622021 | 7 | SAMN00000429 | SNP array | Probe signal intensity | Pass |
| essv6310018 | 7 | SAMN00000441 | SNP array | Probe signal intensity | Pass |
| essv5745451 | 7 | SAMN00000517 | SNP array | Probe signal intensity | Pass |
| essv6085180 | 7 | SAMN00000927 | SNP array | Probe signal intensity | Pass |
| essv5832069 | 7 | SAMN00001614 | SNP array | Probe signal intensity | Pass |
| essv5814094 | 7 | SAMN00001619 | SNP array | Probe signal intensity | Pass |
| essv6538757 | 7 | SAMN00006416 | SNP array | Probe signal intensity | Pass |
| essv6027339 | 7 | SAMN00006425 | SNP array | Probe signal intensity | Pass |
| essv6360014 | 7 | SAMN00006447 | SNP array | Probe signal intensity | Pass |
| essv6051980 | 7 | SAMN00006541 | SNP array | Probe signal intensity | Pass |
| essv6030067 | 7 | SAMN00006574 | SNP array | Probe signal intensity | Pass |
| essv6394866 | 7 | SAMN00016968 | SNP array | Probe signal intensity | Pass |