esv2421460
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,538
- 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: 262 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421460 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| esv2421460 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| esv2421460 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5002168 | deletion | NA19394 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5004183 | deletion | NA19434 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5012730 | deletion | NA19462 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5032262 | deletion | NA19360 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5043537 | deletion | NA19324 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5048154 | deletion | NA19383 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5059188 | deletion | NA19038 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5071653 | deletion | NA19398 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5108986 | deletion | NA19473 | SNP array | SNP genotyping analysis | 0 | 152 |
| essv5111834 | deletion | NA19449 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5118387 | deletion | NA19380 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5118543 | deletion | NA19308 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5124099 | deletion | NA21390 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5137653 | deletion | NA19143 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5145533 | deletion | NA19901 | SNP array | SNP genotyping analysis | 1 | 145 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5002168 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5004183 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5012730 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5032262 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5043537 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5048154 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5059188 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5071653 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5108986 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5111834 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5118387 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5118543 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5124099 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5137653 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5145533 | Remapped | Perfect | NC_000009.12:g.(?_ 104606136)_(104614 673_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,606,136 | 104,614,673 |
| essv5002168 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5004183 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5012730 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5032262 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5043537 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5048154 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5059188 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5071653 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5108986 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5111834 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5118387 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5118543 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5124099 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5137653 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5145533 | Remapped | Perfect | NC_000009.11:g.(?_ 107368417)_(107376 954_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,368,417 | 107,376,954 |
| essv5002168 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5004183 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5012730 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5032262 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5043537 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5048154 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5059188 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5071653 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5108986 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5111834 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5118387 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5118543 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5124099 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5137653 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 | ||
| essv5145533 | Submitted genomic | NC_000009.10:g.(?_ 106408238)_(106416 775_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,408,238 | 106,416,775 |