esv2678121
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Yes
- Clinical Assertions: No
- Region Size:21,955
- 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: 391 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 391 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2678121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| esv2678121 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5396551 | deletion | SAMN00007806 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,659 |
| essv5505466 | deletion | SAMN00001590 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,510 |
| essv5600180 | deletion | SAMN00001118 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,283 |
| essv5947343 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv6047096 | deletion | SAMN00007809 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,340 |
| essv6048675 | deletion | SAMN00007814 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,162 |
| essv6120684 | deletion | SAMN00001182 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv6289116 | deletion | SAMN00001180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
| essv6296701 | deletion | SAMN00007815 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,057 |
| essv6305659 | deletion | SAMN00001170 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,684 |
| essv6481065 | deletion | SAMN00007737 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,715 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5396551 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv5505466 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv5600180 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv5947343 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv6047096 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv6048675 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv6120684 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv6289116 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv6296701 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv6305659 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv6481065 | Remapped | Perfect | NC_000007.14:g.608 2391_6104345delG | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,082,391 | 6,104,345 |
| essv5396551 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv5505466 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv5600180 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv5947343 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv6047096 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv6048675 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv6120684 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv6289116 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv6296701 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv6305659 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 | ||
| essv6481065 | Submitted genomic | NC_000007.13:g.612 2022_6143976delG | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,122,022 | 6,143,976 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5947343 | 9 | SAMN00000574 | Oligo aCGH | Probe signal intensity | Pass |
| essv5600180 | 9 | SAMN00001118 | Oligo aCGH | Probe signal intensity | Pass |
| essv6305659 | 9 | SAMN00001170 | Oligo aCGH | Probe signal intensity | Pass |
| essv6289116 | 9 | SAMN00001180 | Oligo aCGH | Probe signal intensity | Pass |
| essv6120684 | 9 | SAMN00001182 | Oligo aCGH | Probe signal intensity | Pass |
| essv5505466 | 9 | SAMN00001590 | Oligo aCGH | Probe signal intensity | Pass |
| essv6481065 | 9 | SAMN00007737 | Oligo aCGH | Probe signal intensity | Pass |
| essv5396551 | 9 | SAMN00007806 | Oligo aCGH | Probe signal intensity | Pass |
| essv6047096 | 9 | SAMN00007809 | Oligo aCGH | Probe signal intensity | Pass |
| essv6048675 | 9 | SAMN00007814 | Oligo aCGH | Probe signal intensity | Pass |
| essv6296701 | 9 | SAMN00007815 | Oligo aCGH | Probe signal intensity | Pass |
| essv5947343 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv5600180 | 7 | SAMN00001118 | SNP array | Probe signal intensity | Pass |
| essv6305659 | 7 | SAMN00001170 | SNP array | Probe signal intensity | Pass |
| essv6289116 | 7 | SAMN00001180 | SNP array | Probe signal intensity | Pass |
| essv6120684 | 7 | SAMN00001182 | SNP array | Probe signal intensity | Pass |
| essv5505466 | 7 | SAMN00001590 | SNP array | Probe signal intensity | Pass |
| essv6481065 | 7 | SAMN00007737 | SNP array | Probe signal intensity | Pass |
| essv5396551 | 7 | SAMN00007806 | SNP array | Probe signal intensity | Pass |
| essv6047096 | 7 | SAMN00007809 | SNP array | Probe signal intensity | Pass |
| essv6048675 | 7 | SAMN00007814 | SNP array | Probe signal intensity | Pass |
| essv6296701 | 7 | SAMN00007815 | SNP array | Probe signal intensity | Pass |