esv2660894
- Organism: Homo sapiens
- Study:estd199 (1000 Genomes Consortium Phase 1)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:27
- Validation:Yes
- Clinical Assertions: No
- Region Size:18,248
- 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: 439 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 439 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| esv2660894 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| esv2660894 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv5572286 | deletion | SAMN00009186 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,372 |
| essv5574333 | deletion | SAMN00009130 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,791 |
| essv5634787 | deletion | SAMN00009123 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,809 |
| essv5743080 | deletion | SAMN00006583 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,292 |
| essv5768647 | deletion | SAMN00009193 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,085 |
| essv5774807 | deletion | SAMN00009195 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,350 |
| essv5849593 | deletion | SAMN00009120 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,658 |
| essv5880724 | deletion | SAMN00009140 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,417 |
| essv5916829 | deletion | SAMN00009192 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,161 |
| essv5921554 | deletion | SAMN00009139 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,778 |
| essv6011369 | deletion | SAMN00009184 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,318 |
| essv6028329 | deletion | SAMN00009177 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 756 |
| essv6036740 | deletion | SAMN00009189 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,058 |
| essv6075047 | deletion | SAMN00009187 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,487 |
| essv6166878 | deletion | SAMN00009129 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,769 |
| essv6175360 | deletion | SAMN00009117 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,813 |
| essv6180971 | deletion | SAMN00009190 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,097 |
| essv6186183 | deletion | SAMN00009128 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,219 |
| essv6201061 | deletion | SAMN00009183 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 361 |
| essv6276092 | deletion | SAMN00009172 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,731 |
| essv6382085 | deletion | SAMN00009116 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,780 |
| essv6460230 | deletion | SAMN00009122 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,848 |
| essv6461057 | deletion | SAMN00009169 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 910 |
| essv6496894 | deletion | SAMN00009119 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,790 |
| essv6522635 | deletion | SAMN00006602 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 739 |
| essv6564359 | deletion | SAMN00009171 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,640 |
| essv6583232 | deletion | SAMN00009145 | Sequencing | Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping | 1,845 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| essv5572286 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5574333 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5634787 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5743080 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5768647 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5774807 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5849593 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5880724 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5916829 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5921554 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6011369 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6028329 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6036740 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6075047 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6166878 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6175360 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6180971 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6186183 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6201061 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6276092 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6382085 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6460230 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6461057 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6496894 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6522635 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6564359 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv6583232 | Remapped | Perfect | NC_000019.10:g.(18 54446_1854817)_(18 72323_1872693)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 1,854,446 | 1,854,817 | 1,872,323 | 1,872,693 |
| essv5572286 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5574333 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5634787 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5743080 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5768647 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5774807 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5849593 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5880724 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5916829 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv5921554 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6011369 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6028329 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6036740 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6075047 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6166878 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6175360 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6180971 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6186183 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6201061 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6276092 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6382085 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6460230 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6461057 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6496894 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6522635 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6564359 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 | ||
| essv6583232 | Submitted genomic | NC_000019.9:g.(185 4445_1854816)_(187 2322_1872692)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 1,854,445 | 1,854,816 | 1,872,322 | 1,872,692 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv5743080 | 7 | SAMN00006583 | SNP array | Probe signal intensity | Pass |
| essv6522635 | 7 | SAMN00006602 | SNP array | Probe signal intensity | Pass |
| essv6382085 | 7 | SAMN00009116 | SNP array | Probe signal intensity | Pass |
| essv6175360 | 7 | SAMN00009117 | SNP array | Probe signal intensity | Pass |
| essv6496894 | 7 | SAMN00009119 | SNP array | Probe signal intensity | Pass |
| essv5849593 | 7 | SAMN00009120 | SNP array | Probe signal intensity | Pass |
| essv6460230 | 7 | SAMN00009122 | SNP array | Probe signal intensity | Pass |
| essv5634787 | 7 | SAMN00009123 | SNP array | Probe signal intensity | Pass |
| essv6186183 | 7 | SAMN00009128 | SNP array | Probe signal intensity | Pass |
| essv6166878 | 7 | SAMN00009129 | SNP array | Probe signal intensity | Pass |
| essv5574333 | 7 | SAMN00009130 | SNP array | Probe signal intensity | Pass |
| essv5921554 | 7 | SAMN00009139 | SNP array | Probe signal intensity | Pass |
| essv5880724 | 7 | SAMN00009140 | SNP array | Probe signal intensity | Pass |
| essv6583232 | 7 | SAMN00009145 | SNP array | Probe signal intensity | Pass |
| essv6461057 | 7 | SAMN00009169 | SNP array | Probe signal intensity | Pass |
| essv6564359 | 7 | SAMN00009171 | SNP array | Probe signal intensity | Pass |
| essv6276092 | 7 | SAMN00009172 | SNP array | Probe signal intensity | Pass |
| essv6028329 | 7 | SAMN00009177 | SNP array | Probe signal intensity | Pass |
| essv6201061 | 7 | SAMN00009183 | SNP array | Probe signal intensity | Pass |
| essv6011369 | 7 | SAMN00009184 | SNP array | Probe signal intensity | Pass |
| essv5572286 | 7 | SAMN00009186 | SNP array | Probe signal intensity | Pass |
| essv6075047 | 7 | SAMN00009187 | SNP array | Probe signal intensity | Pass |
| essv6036740 | 7 | SAMN00009189 | SNP array | Probe signal intensity | Pass |
| essv6180971 | 7 | SAMN00009190 | SNP array | Probe signal intensity | Pass |
| essv5916829 | 7 | SAMN00009192 | SNP array | Probe signal intensity | Pass |
| essv5768647 | 7 | SAMN00009193 | SNP array | Probe signal intensity | Pass |
| essv5774807 | 7 | SAMN00009195 | SNP array | Probe signal intensity | Pass |