esv2672416
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:16
- Validation:Yes
- Clinical Assertions: No
- Region Size:116,768
- 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: 472 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 470 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2672416 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| esv2672416 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5452444 | deletion | SAMN00001137 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,647 |
| essv5620274 | deletion | SAMN00009166 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,062 |
| essv5677640 | deletion | SAMN00014323 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,735 |
| essv5836191 | deletion | SAMN00001121 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,383 |
| essv5921559 | deletion | SAMN00009122 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,848 |
| essv5964772 | deletion | SAMN00801422 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,289 |
| essv6001711 | deletion | SAMN00007823 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,287 |
| essv6147374 | deletion | SAMN00006353 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,078 |
| essv6271432 | deletion | SAMN00001270 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 783 |
| essv6285840 | deletion | SAMN00014350 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,216 |
| essv6387400 | deletion | SAMN00009160 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,450 |
| essv6412223 | deletion | SAMN00001120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,364 |
| essv6412329 | deletion | SAMN00009163 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,477 |
| essv6432225 | deletion | SAMN00006555 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,653 |
| essv6455588 | deletion | SAMN00006507 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,055 |
| essv6498472 | deletion | SAMN00009156 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,323 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5452444 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv5620274 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv5677640 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv5836191 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv5921559 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv5964772 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6001711 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6147374 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6271432 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6285840 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6387400 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6412223 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6412329 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6432225 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6455588 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv6498472 | Remapped | Perfect | NC_000023.11:g.758 06128_75922895delC | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,806,128 | 75,922,895 |
| essv5452444 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv5620274 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv5677640 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv5836191 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv5921559 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv5964772 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6001711 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6147374 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6271432 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6285840 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6387400 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6412223 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6412329 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6432225 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6455588 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 | ||
| essv6498472 | Submitted genomic | NC_000023.10:g.750 25963_75142730delC | GRCh37 (hg19) | NC_000023.10 | ChrX | 75,025,963 | 75,142,730 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv6412223 | 9 | SAMN00001120 | Oligo aCGH | Probe signal intensity | Pass |
| essv5836191 | 9 | SAMN00001121 | Oligo aCGH | Probe signal intensity | Pass |
| essv5452444 | 9 | SAMN00001137 | Oligo aCGH | Probe signal intensity | Pass |
| essv6271432 | 9 | SAMN00001270 | Oligo aCGH | Probe signal intensity | Pass |
| essv6147374 | 9 | SAMN00006353 | Oligo aCGH | Probe signal intensity | Pass |
| essv6455588 | 9 | SAMN00006507 | Oligo aCGH | Probe signal intensity | Pass |
| essv6432225 | 9 | SAMN00006555 | Oligo aCGH | Probe signal intensity | Pass |
| essv6001711 | 9 | SAMN00007823 | Oligo aCGH | Probe signal intensity | Pass |
| essv5921559 | 9 | SAMN00009122 | Oligo aCGH | Probe signal intensity | Pass |
| essv6498472 | 9 | SAMN00009156 | Oligo aCGH | Probe signal intensity | Pass |
| essv6387400 | 9 | SAMN00009160 | Oligo aCGH | Probe signal intensity | Pass |
| essv6412329 | 9 | SAMN00009163 | Oligo aCGH | Probe signal intensity | Pass |
| essv5620274 | 9 | SAMN00009166 | Oligo aCGH | Probe signal intensity | Pass |
| essv5677640 | 9 | SAMN00014323 | Oligo aCGH | Probe signal intensity | Pass |
| essv6285840 | 9 | SAMN00014350 | Oligo aCGH | Probe signal intensity | Pass |
| essv5964772 | 9 | SAMN00801422 | Oligo aCGH | Probe signal intensity | Pass |
| essv6412223 | 7 | SAMN00001120 | SNP array | Probe signal intensity | Pass |
| essv5836191 | 7 | SAMN00001121 | SNP array | Probe signal intensity | Pass |
| essv5452444 | 7 | SAMN00001137 | SNP array | Probe signal intensity | Pass |
| essv6271432 | 7 | SAMN00001270 | SNP array | Probe signal intensity | Pass |
| essv6147374 | 7 | SAMN00006353 | SNP array | Probe signal intensity | Pass |
| essv6455588 | 7 | SAMN00006507 | SNP array | Probe signal intensity | Pass |
| essv6432225 | 7 | SAMN00006555 | SNP array | Probe signal intensity | Pass |
| essv6001711 | 7 | SAMN00007823 | SNP array | Probe signal intensity | Pass |
| essv5921559 | 7 | SAMN00009122 | SNP array | Probe signal intensity | Pass |
| essv6498472 | 7 | SAMN00009156 | SNP array | Probe signal intensity | Pass |
| essv6387400 | 7 | SAMN00009160 | SNP array | Probe signal intensity | Pass |
| essv6412329 | 7 | SAMN00009163 | SNP array | Probe signal intensity | Pass |
| essv5620274 | 7 | SAMN00009166 | SNP array | Probe signal intensity | Pass |
| essv5677640 | 7 | SAMN00014323 | SNP array | Probe signal intensity | Pass |
| essv6285840 | 7 | SAMN00014350 | SNP array | Probe signal intensity | Pass |
| essv5964772 | 7 | SAMN00801422 | SNP array | Probe signal intensity | Pass |