esv2421459
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:21
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,223
- 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: 829 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 829 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 324 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421459 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| esv2421459 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| esv2421459 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5007532 | deletion | NA12056 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5017509 | deletion | NA12775 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5024772 | deletion | NA12343 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5027931 | deletion | NA21090 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5046322 | deletion | NA20524 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5048263 | deletion | NA20849 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5048554 | deletion | NA19663 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5050588 | deletion | NA20890 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5050686 | deletion | NA20778 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5060627 | deletion | NA20543 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5061017 | deletion | NA07357 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5061333 | deletion | NA20800 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5075716 | deletion | NA12249 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5106899 | deletion | NA12874 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5108830 | deletion | NA12336 | SNP array | SNP genotyping analysis | 1 | 120 |
| essv5112305 | deletion | NA12766 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5115336 | deletion | NA10835 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5116188 | deletion | NA20753 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5118505 | deletion | NA20877 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5121473 | deletion | NA20509 | SNP array | SNP genotyping analysis | 1 | 145 |
| essv5128989 | deletion | NA11832 | SNP array | SNP genotyping analysis | 1 | 136 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5007532 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5017509 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5024772 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5027931 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5046322 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5048263 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5048554 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5050588 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5050686 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5060627 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5061017 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5061333 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5075716 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5106899 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5108830 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5112305 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5115336 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5116188 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5118505 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5121473 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5128989 | Remapped | Perfect | NC_000008.11:g.(?_ 136814657)_(136849 879_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,814,657 | 136,849,879 |
| essv5007532 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5017509 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5024772 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5027931 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5046322 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5048263 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5048554 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5050588 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5050686 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5060627 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5061017 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5061333 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5075716 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5106899 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5108830 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5112305 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5115336 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5116188 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5118505 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5121473 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5128989 | Remapped | Perfect | NC_000008.10:g.(?_ 137826900)_(137862 122_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,826,900 | 137,862,122 |
| essv5007532 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5017509 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5024772 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5027931 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5046322 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5048263 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5048554 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5050588 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5050686 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5060627 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5061017 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5061333 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5075716 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5106899 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5108830 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5112305 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5115336 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5116188 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5118505 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5121473 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 | ||
| essv5128989 | Submitted genomic | NC_000008.9:g.(?_1 37896082)_(1379313 04_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,896,082 | 137,931,304 |