esv2672929
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,450
- 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: 198 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2672929 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| esv2672929 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5406967 | deletion | SAMN00006544 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,696 |
| essv5518329 | deletion | SAMN00004683 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,782 |
| essv5615561 | deletion | SAMN00006507 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
| essv5640267 | deletion | SAMN00006514 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,671 |
| essv5658332 | deletion | SAMN00000423 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,491 |
| essv5697181 | deletion | SAMN00009248 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,270 |
| essv5756204 | deletion | SAMN00009136 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,371 |
| essv5809221 | deletion | SAMN00006466 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,824 |
| essv5946305 | deletion | SAMN00014350 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,216 |
| essv5963089 | deletion | SAMN00007746 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,178 |
| essv6007433 | deletion | SAMN00009160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,450 |
| essv6047911 | deletion | SAMN00007700 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,460 |
| essv6061717 | deletion | SAMN00000510 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,141 |
| essv6168232 | deletion | SAMN00001600 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,284 |
| essv6173101 | deletion | SAMN00014341 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,190 |
| essv6305055 | deletion | SAMN00007750 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,332 |
| essv6332404 | deletion | SAMN00009129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,769 |
| essv6333649 | deletion | SAMN00007785 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
| essv6449282 | deletion | SAMN00007791 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,181 |
| essv6457129 | deletion | SAMN00000516 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,091 |
| essv6475208 | deletion | SAMN00009175 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,711 |
| essv6558773 | deletion | SAMN00006445 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,718 |
| essv6584395 | deletion | SAMN00000524 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,146 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5406967 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5518329 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5615561 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5640267 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5658332 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5697181 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5756204 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5809221 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5946305 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5963089 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6007433 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6047911 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6061717 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6168232 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6173101 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6305055 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6332404 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6333649 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6449282 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6457129 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6475208 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6558773 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv6584395 | Remapped | Perfect | NC_000016.10:g.600 47208_60064657delG | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 60,047,208 | 60,064,657 |
| essv5406967 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5518329 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5615561 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5640267 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5658332 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5697181 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5756204 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5809221 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5946305 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv5963089 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6007433 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6047911 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6061717 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6168232 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6173101 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6305055 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6332404 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6333649 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6449282 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6457129 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6475208 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6558773 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 | ||
| essv6584395 | Submitted genomic | NC_000016.9:g.6008 1112_60098561delG | GRCh37 (hg19) | NC_000016.9 | Chr16 | 60,081,112 | 60,098,561 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5658332 | 7 | SAMN00000423 | SNP array | Probe signal intensity | Pass |
| essv6061717 | 7 | SAMN00000510 | SNP array | Probe signal intensity | Pass |
| essv6457129 | 7 | SAMN00000516 | SNP array | Probe signal intensity | Pass |
| essv6584395 | 7 | SAMN00000524 | SNP array | Probe signal intensity | Pass |
| essv6168232 | 7 | SAMN00001600 | SNP array | Probe signal intensity | Pass |
| essv5518329 | 7 | SAMN00004683 | SNP array | Probe signal intensity | Pass |
| essv6558773 | 7 | SAMN00006445 | SNP array | Probe signal intensity | Pass |
| essv5809221 | 7 | SAMN00006466 | SNP array | Probe signal intensity | Pass |
| essv5615561 | 7 | SAMN00006507 | SNP array | Probe signal intensity | Pass |
| essv5640267 | 7 | SAMN00006514 | SNP array | Probe signal intensity | Pass |
| essv5406967 | 7 | SAMN00006544 | SNP array | Probe signal intensity | Pass |
| essv6047911 | 7 | SAMN00007700 | SNP array | Probe signal intensity | Pass |
| essv5963089 | 7 | SAMN00007746 | SNP array | Probe signal intensity | Pass |
| essv6305055 | 7 | SAMN00007750 | SNP array | Probe signal intensity | Pass |
| essv6333649 | 7 | SAMN00007785 | SNP array | Probe signal intensity | Pass |
| essv6449282 | 7 | SAMN00007791 | SNP array | Probe signal intensity | Pass |
| essv6332404 | 7 | SAMN00009129 | SNP array | Probe signal intensity | Pass |
| essv5756204 | 7 | SAMN00009136 | SNP array | Probe signal intensity | Pass |
| essv6007433 | 7 | SAMN00009160 | SNP array | Probe signal intensity | Pass |
| essv6475208 | 7 | SAMN00009175 | SNP array | Probe signal intensity | Pass |
| essv5697181 | 7 | SAMN00009248 | SNP array | Probe signal intensity | Pass |
| essv6173101 | 7 | SAMN00014341 | SNP array | Probe signal intensity | Pass |
| essv5946305 | 7 | SAMN00014350 | SNP array | Probe signal intensity | Pass |