esv2421336
- 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:145,282
- 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: 1245 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1245 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 456 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| esv2421336 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| esv2421336 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5002623 | deletion | NA20509 | SNP array | SNP genotyping analysis | 0 | 145 |
| essv5005613 | deletion | NA12336 | SNP array | SNP genotyping analysis | 1 | 120 |
| essv5014038 | deletion | NA20753 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5023786 | deletion | NA20778 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5039780 | deletion | NA12056 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5076639 | deletion | NA12766 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5077511 | deletion | NA20877 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5083765 | deletion | NA12775 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5084355 | deletion | NA10835 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5090559 | deletion | NA19663 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5102244 | deletion | NA07357 | SNP array | SNP genotyping analysis | 1 | 139 |
| essv5114417 | deletion | NA21090 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5120656 | deletion | NA20543 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5121680 | deletion | NA12343 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5130059 | deletion | NA20890 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5130098 | deletion | NA20849 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5140754 | deletion | NA20524 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5141197 | deletion | NA11832 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5142172 | deletion | NA20800 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5144693 | deletion | NA12874 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5147288 | deletion | NA12249 | SNP array | SNP genotyping analysis | 1 | 139 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5002623 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5005613 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5014038 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5023786 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5039780 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5076639 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5077511 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5083765 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5084355 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5090559 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5102244 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5114417 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5120656 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5121680 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5130059 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5130098 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5140754 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5141197 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5142172 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5144693 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5147288 | Remapped | Perfect | NC_000008.11:g.(?_ 136669376)_(136814 657_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,669,376 | 136,814,657 |
| essv5002623 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5005613 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5014038 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5023786 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5039780 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5076639 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5077511 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5083765 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5084355 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5090559 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5102244 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5114417 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5120656 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5121680 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5130059 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5130098 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5140754 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5141197 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5142172 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5144693 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5147288 | Remapped | Perfect | NC_000008.10:g.(?_ 137681619)_(137826 900_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,681,619 | 137,826,900 |
| essv5002623 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5005613 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5014038 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5023786 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5039780 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5076639 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5077511 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5083765 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5084355 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5090559 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5102244 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5114417 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5120656 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5121680 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5130059 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5130098 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5140754 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5141197 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5142172 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5144693 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 | ||
| essv5147288 | Submitted genomic | NC_000008.9:g.(?_1 37750801)_(1378960 82_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,750,801 | 137,896,082 |