esv2668553
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Yes
- Clinical Assertions: No
- Region Size:25,109
- 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: 271 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2668553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| esv2668553 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5441331 | deletion | SAMN00001182 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,509 |
| essv5474977 | deletion | SAMN00001102 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,259 |
| essv5553076 | deletion | SAMN00007818 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,316 |
| essv5622316 | deletion | SAMN00000571 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,271 |
| essv5624100 | deletion | SAMN00009250 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,377 |
| essv5631209 | deletion | SAMN00000414 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,260 |
| essv5694209 | deletion | SAMN00001149 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,599 |
| essv5842469 | deletion | SAMN00001180 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,453 |
| essv5877031 | deletion | SAMN00001173 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,274 |
| essv5951360 | deletion | SAMN00001685 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,589 |
| essv5970710 | deletion | SAMN00001181 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,016 |
| essv5978734 | deletion | SAMN00001629 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,430 |
| essv6017336 | deletion | SAMN00001150 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,706 |
| essv6039421 | deletion | SAMN00001137 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,647 |
| essv6082165 | deletion | SAMN00000574 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,208 |
| essv6159047 | deletion | SAMN00001183 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,354 |
| essv6181108 | deletion | SAMN00001117 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,366 |
| essv6408429 | deletion | SAMN00006534 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 915 |
| essv6410556 | deletion | SAMN00001131 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,611 |
| essv6415542 | deletion | SAMN00001164 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,515 |
| essv6462658 | deletion | SAMN00001140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,625 |
| essv6551687 | deletion | SAMN00001138 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,561 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5441331 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5474977 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5553076 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5622316 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5624100 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5631209 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5694209 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5842469 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5877031 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5951360 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5970710 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5978734 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6017336 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6039421 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6082165 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6159047 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6181108 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6408429 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6410556 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6415542 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6462658 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv6551687 | Remapped | Perfect | NC_000017.11:g.619 8518_6223626delC | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 6,198,518 | 6,223,626 |
| essv5441331 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5474977 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5553076 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5622316 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5624100 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5631209 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5694209 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5842469 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5877031 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5951360 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5970710 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv5978734 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6017336 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6039421 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6082165 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6159047 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6181108 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6408429 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6410556 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6415542 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6462658 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 | ||
| essv6551687 | Submitted genomic | NC_000017.10:g.610 1838_6126946delC | GRCh37 (hg19) | NC_000017.10 | Chr17 | 6,101,838 | 6,126,946 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5631209 | 9 | SAMN00000414 | Oligo aCGH | Probe signal intensity | Pass |
| essv5622316 | 9 | SAMN00000571 | Oligo aCGH | Probe signal intensity | Pass |
| essv6082165 | 9 | SAMN00000574 | Oligo aCGH | Probe signal intensity | Pass |
| essv5474977 | 9 | SAMN00001102 | Oligo aCGH | Probe signal intensity | Pass |
| essv6181108 | 9 | SAMN00001117 | Oligo aCGH | Probe signal intensity | Pass |
| essv6410556 | 9 | SAMN00001131 | Oligo aCGH | Probe signal intensity | Pass |
| essv6039421 | 9 | SAMN00001137 | Oligo aCGH | Probe signal intensity | Pass |
| essv6551687 | 9 | SAMN00001138 | Oligo aCGH | Probe signal intensity | Pass |
| essv6462658 | 9 | SAMN00001140 | Oligo aCGH | Probe signal intensity | Pass |
| essv5694209 | 9 | SAMN00001149 | Oligo aCGH | Probe signal intensity | Pass |
| essv6017336 | 9 | SAMN00001150 | Oligo aCGH | Probe signal intensity | Pass |
| essv6415542 | 9 | SAMN00001164 | Oligo aCGH | Probe signal intensity | Pass |
| essv5877031 | 9 | SAMN00001173 | Oligo aCGH | Probe signal intensity | Pass |
| essv5842469 | 9 | SAMN00001180 | Oligo aCGH | Probe signal intensity | Pass |
| essv5970710 | 9 | SAMN00001181 | Oligo aCGH | Probe signal intensity | Pass |
| essv5441331 | 9 | SAMN00001182 | Oligo aCGH | Probe signal intensity | Pass |
| essv6159047 | 9 | SAMN00001183 | Oligo aCGH | Probe signal intensity | Pass |
| essv5978734 | 9 | SAMN00001629 | Oligo aCGH | Probe signal intensity | Pass |
| essv5951360 | 9 | SAMN00001685 | Oligo aCGH | Probe signal intensity | Pass |
| essv6408429 | 9 | SAMN00006534 | Oligo aCGH | Probe signal intensity | Pass |
| essv5553076 | 9 | SAMN00007818 | Oligo aCGH | Probe signal intensity | Pass |
| essv5624100 | 9 | SAMN00009250 | Oligo aCGH | Probe signal intensity | Pass |
| essv5631209 | 7 | SAMN00000414 | SNP array | Probe signal intensity | Pass |
| essv5622316 | 7 | SAMN00000571 | SNP array | Probe signal intensity | Pass |
| essv6082165 | 7 | SAMN00000574 | SNP array | Probe signal intensity | Pass |
| essv5474977 | 7 | SAMN00001102 | SNP array | Probe signal intensity | Pass |
| essv6181108 | 7 | SAMN00001117 | SNP array | Probe signal intensity | Pass |
| essv6410556 | 7 | SAMN00001131 | SNP array | Probe signal intensity | Pass |
| essv6039421 | 7 | SAMN00001137 | SNP array | Probe signal intensity | Pass |
| essv6551687 | 7 | SAMN00001138 | SNP array | Probe signal intensity | Pass |
| essv6462658 | 7 | SAMN00001140 | SNP array | Probe signal intensity | Pass |
| essv5694209 | 7 | SAMN00001149 | SNP array | Probe signal intensity | Pass |
| essv6017336 | 7 | SAMN00001150 | SNP array | Probe signal intensity | Pass |
| essv6415542 | 7 | SAMN00001164 | SNP array | Probe signal intensity | Pass |
| essv5877031 | 7 | SAMN00001173 | SNP array | Probe signal intensity | Pass |
| essv5842469 | 7 | SAMN00001180 | SNP array | Probe signal intensity | Pass |
| essv5970710 | 7 | SAMN00001181 | SNP array | Probe signal intensity | Pass |
| essv5441331 | 7 | SAMN00001182 | SNP array | Probe signal intensity | Pass |
| essv6159047 | 7 | SAMN00001183 | SNP array | Probe signal intensity | Pass |
| essv5978734 | 7 | SAMN00001629 | SNP array | Probe signal intensity | Pass |
| essv5951360 | 7 | SAMN00001685 | SNP array | Probe signal intensity | Pass |
| essv6408429 | 7 | SAMN00006534 | SNP array | Probe signal intensity | Pass |
| essv5553076 | 7 | SAMN00007818 | SNP array | Probe signal intensity | Pass |
| essv5624100 | 7 | SAMN00009250 | SNP array | Probe signal intensity | Pass |