esv2422101
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,085
- 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: 363 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 103 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422101 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| esv2422101 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| esv2422101 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5007539 | deletion | NA21309 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5026678 | deletion | NA19210 | SNP array | SNP genotyping analysis | 1 | 149 |
| essv5026722 | deletion | NA19137 | SNP array | SNP genotyping analysis | 1 | 166 |
| essv5052819 | deletion | NA19083 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5054120 | deletion | NA19761 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5067677 | deletion | NA21307 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5068183 | deletion | NA19094 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5077080 | deletion | NA19189 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5080161 | deletion | NA19093 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5081458 | deletion | NA18520 | SNP array | SNP genotyping analysis | 1 | 154 |
| essv5082877 | deletion | NA21099 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5086908 | deletion | NA19191 | SNP array | SNP genotyping analysis | 1 | 162 |
| essv5103477 | deletion | NA19192 | SNP array | SNP genotyping analysis | 1 | 131 |
| essv5107571 | deletion | NA19118 | SNP array | SNP genotyping analysis | 1 | 127 |
| essv5112869 | deletion | NA20288 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5114262 | deletion | NA19771 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5126920 | deletion | NA19472 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5131605 | deletion | NA18935 | SNP array | SNP genotyping analysis | 1 | 162 |
| essv5136687 | deletion | NA19194 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5158950 | deletion | NA18933 | SNP array | SNP genotyping analysis | 1 | 150 |
| essv5159243 | deletion | NA21297 | SNP array | SNP genotyping analysis | 1 | 129 |
| essv5160518 | deletion | NA19763 | SNP array | SNP genotyping analysis | 1 | 125 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5007539 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5026678 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5026722 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5052819 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5054120 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5067677 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5068183 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5077080 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5080161 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5081458 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5082877 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5086908 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5103477 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5107571 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5112869 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5114262 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5126920 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5131605 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5136687 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5158950 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5159243 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5160518 | Remapped | Perfect | NC_000005.10:g.(?_ 116258447)_(116289 531_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 116,258,447 | 116,289,531 |
| essv5007539 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5026678 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5026722 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5052819 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5054120 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5067677 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5068183 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5077080 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5080161 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5081458 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5082877 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5086908 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5103477 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5107571 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5112869 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5114262 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5126920 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5131605 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5136687 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5158950 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5159243 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5160518 | Remapped | Perfect | NC_000005.9:g.(?_1 15594144)_(1156252 28_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 115,594,144 | 115,625,228 |
| essv5007539 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5026678 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5026722 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5052819 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5054120 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5067677 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5068183 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5077080 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5080161 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5081458 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5082877 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5086908 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5103477 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5107571 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5112869 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5114262 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5126920 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5131605 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5136687 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5158950 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5159243 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 | ||
| essv5160518 | Submitted genomic | NC_000005.8:g.(?_1 15622043)_(1156531 27_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 115,622,043 | 115,653,127 |