esv2421878
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:24
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,816
- 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: 188 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421878 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| esv2421878 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| esv2421878 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5012679 | deletion | NA19448 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5037468 | deletion | NA19702 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5039202 | deletion | NA18909 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5047045 | deletion | NA21635 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5047370 | deletion | NA19031 | SNP array | SNP genotyping analysis | 1 | 126 |
| essv5055680 | deletion | NA19393 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5059806 | deletion | NA19473 | SNP array | SNP genotyping analysis | 1 | 152 |
| essv5060008 | deletion | NA19625 | SNP array | SNP genotyping analysis | 1 | 175 |
| essv5065995 | deletion | NA19455 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5066586 | deletion | NA19115 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5069551 | deletion | NA19701 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5076010 | deletion | NA18859 | SNP array | SNP genotyping analysis | 1 | 142 |
| essv5095219 | deletion | NA21619 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5098440 | deletion | NA19114 | SNP array | SNP genotyping analysis | 1 | 151 |
| essv5109736 | deletion | NA19700 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5118833 | deletion | NA19451 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5118939 | deletion | NA18933 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5133947 | deletion | NA18869 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5135477 | deletion | NA19159 | SNP array | SNP genotyping analysis | 1 | 167 |
| essv5143473 | deletion | NA18868 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5148649 | deletion | NA21111 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5150843 | deletion | NA21722 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5157332 | deletion | NA21611 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5158324 | deletion | NA19101 | SNP array | SNP genotyping analysis | 1 | 141 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5012679 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5037468 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5039202 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5047045 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5047370 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5055680 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5059806 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5060008 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5065995 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5066586 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5069551 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5076010 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5095219 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5098440 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5109736 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5118833 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5118939 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5133947 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5135477 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5143473 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5148649 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5150843 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5157332 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5158324 | Remapped | Perfect | NC_000006.12:g.(?_ 38424030)_(3843484 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 38,424,030 | 38,434,845 |
| essv5012679 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5037468 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5039202 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5047045 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5047370 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5055680 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5059806 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5060008 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5065995 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5066586 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5069551 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5076010 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5095219 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5098440 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5109736 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5118833 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5118939 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5133947 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5135477 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5143473 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5148649 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5150843 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5157332 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5158324 | Remapped | Perfect | NC_000006.11:g.(?_ 38391806)_(3840262 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 38,391,806 | 38,402,621 |
| essv5012679 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5037468 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5039202 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5047045 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5047370 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5055680 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5059806 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5060008 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5065995 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5066586 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5069551 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5076010 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5095219 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5098440 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5109736 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5118833 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5118939 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5133947 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5135477 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5143473 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5148649 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5150843 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5157332 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 | ||
| essv5158324 | Submitted genomic | NC_000006.10:g.(?_ 38499784)_(3851059 9_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 38,499,784 | 38,510,599 |