esv2421775
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,387
- Publication(s):International HapMap 3 Consortium et al. 2010
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: 338 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 338 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2421775 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| esv2421775 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| esv2421775 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5003779 | duplication | NA19153 | SNP array | SNP genotyping analysis | 3 | 114 |
| essv5006851 | duplication | NA18910 | SNP array | SNP genotyping analysis | 3 | 154 |
| essv5020092 | duplication | NA19154 | SNP array | SNP genotyping analysis | 3 | 128 |
| essv5029565 | duplication | NA19149 | SNP array | SNP genotyping analysis | 3 | 143 |
| essv5034236 | duplication | NA18520 | SNP array | SNP genotyping analysis | 3 | 154 |
| essv5038003 | duplication | NA18518 | SNP array | SNP genotyping analysis | 3 | 153 |
| essv5045761 | duplication | NA19909 | SNP array | SNP genotyping analysis | 3 | 142 |
| essv5049217 | duplication | NA19919 | SNP array | SNP genotyping analysis | 3 | 157 |
| essv5055068 | duplication | NA19916 | SNP array | SNP genotyping analysis | 3 | 144 |
| essv5074006 | duplication | NA20347 | SNP array | SNP genotyping analysis | 3 | 141 |
| essv5076866 | duplication | NA19982 | SNP array | SNP genotyping analysis | 3 | 139 |
| essv5105971 | duplication | NA19257 | SNP array | SNP genotyping analysis | 3 | 147 |
| essv5106769 | duplication | NA19711 | SNP array | SNP genotyping analysis | 3 | 139 |
| essv5110646 | duplication | NA20340 | SNP array | SNP genotyping analysis | 3 | 132 |
| essv5134862 | duplication | NA20317 | SNP array | SNP genotyping analysis | 3 | 138 |
| essv5140180 | duplication | NA19258 | SNP array | SNP genotyping analysis | 3 | 139 |
| essv5143935 | duplication | NA20346 | SNP array | SNP genotyping analysis | 3 | 126 |
| essv5147319 | duplication | NA19201 | SNP array | SNP genotyping analysis | 3 | 153 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5003779 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5006851 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5020092 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5029565 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5034236 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5038003 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5045761 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5049217 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5055068 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5074006 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5076866 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5105971 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5106769 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5110646 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5134862 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5140180 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5143935 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5147319 | Remapped | Perfect | NC_000008.11:g.(?_ 121308320)_(121329 706_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 121,308,320 | 121,329,706 |
| essv5003779 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5006851 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5020092 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5029565 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5034236 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5038003 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5045761 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5049217 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5055068 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5074006 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5076866 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5105971 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5106769 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5110646 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5134862 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5140180 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5143935 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5147319 | Remapped | Perfect | NC_000008.10:g.(?_ 122320560)_(122341 946_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 122,320,560 | 122,341,946 |
| essv5003779 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5006851 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5020092 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5029565 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5034236 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5038003 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5045761 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5049217 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5055068 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5074006 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5076866 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5105971 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5106769 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5110646 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5134862 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5140180 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5143935 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 | ||
| essv5147319 | Submitted genomic | NC_000008.9:g.(?_1 22389741)_(1224111 27_?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 122,389,741 | 122,411,127 |