esv2421981
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:26
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,234
- 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: 412 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 151 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421981 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| esv2421981 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| esv2421981 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5002953 | deletion | NA19708 | SNP array | SNP genotyping analysis | 1 | 156 |
| essv5007775 | deletion | NA20295 | SNP array | SNP genotyping analysis | 1 | 148 |
| essv5009500 | deletion | NA19310 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5013681 | deletion | NA19324 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5013910 | deletion | NA21619 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5018914 | deletion | NA19434 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5026593 | deletion | NA19215 | SNP array | SNP genotyping analysis | 1 | 147 |
| essv5044189 | deletion | NA19373 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5044767 | deletion | NA19382 | SNP array | SNP genotyping analysis | 1 | 146 |
| essv5044984 | deletion | NA19443 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5050832 | deletion | NA19139 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5059324 | deletion | NA21635 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5065250 | deletion | NA19334 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5069998 | deletion | NA20294 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5078455 | deletion | NA19035 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5081717 | deletion | NA19430 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5095253 | deletion | NA19391 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5097330 | deletion | NA19462 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5109350 | deletion | NA19137 | SNP array | SNP genotyping analysis | 1 | 166 |
| essv5112285 | deletion | NA20335 | SNP array | SNP genotyping analysis | 1 | 157 |
| essv5123733 | deletion | NA19225 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5132929 | deletion | NA19404 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5139522 | deletion | NA19313 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5143199 | deletion | NA19224 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5143387 | deletion | NA19027 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5153504 | deletion | NA19214 | SNP array | SNP genotyping analysis | 1 | 137 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5002953 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5007775 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5009500 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5013681 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5013910 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5018914 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5026593 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5044189 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5044767 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5044984 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5050832 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5059324 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5065250 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5069998 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5078455 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5081717 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5095253 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5097330 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5109350 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5112285 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5123733 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5132929 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5139522 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5143199 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5143387 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5153504 | Remapped | Perfect | NC_000002.12:g.(?_ 184234958)_(184272 191_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 184,234,958 | 184,272,191 |
| essv5002953 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5007775 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5009500 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5013681 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5013910 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5018914 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5026593 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5044189 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5044767 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5044984 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5050832 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5059324 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5065250 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5069998 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5078455 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5081717 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5095253 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5097330 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5109350 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5112285 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5123733 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5132929 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5139522 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5143199 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5143387 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5153504 | Remapped | Perfect | NC_000002.11:g.(?_ 185099685)_(185136 918_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 185,099,685 | 185,136,918 |
| essv5002953 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5007775 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5009500 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5013681 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5013910 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5018914 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5026593 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5044189 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5044767 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5044984 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5050832 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5059324 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5065250 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5069998 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5078455 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5081717 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5095253 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5097330 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5109350 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5112285 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5123733 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5132929 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5139522 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5143199 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5143387 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 | ||
| essv5153504 | Submitted genomic | NC_000002.10:g.(?_ 184807930)_(184845 163_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 184,807,930 | 184,845,163 |