esv2422135
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:18
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,613
- 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: 502 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 502 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2422135 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| esv2422135 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| esv2422135 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| esv2422135 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5015079 | deletion | NA20854 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5029521 | deletion | NA20761 | SNP array | SNP genotyping analysis | 1 | 135 |
| essv5031088 | deletion | NA20851 | SNP array | SNP genotyping analysis | 1 | 121 |
| essv5050650 | deletion | NA12890 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5058198 | deletion | NA12343 | SNP array | SNP genotyping analysis | 1 | 125 |
| essv5070530 | deletion | NA19725 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5073188 | deletion | NA20856 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5075364 | deletion | NA18605 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5087955 | deletion | NA12873 | SNP array | SNP genotyping analysis | 1 | 134 |
| essv5094889 | deletion | NA12336 | SNP array | SNP genotyping analysis | 1 | 120 |
| essv5104275 | deletion | NA10839 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5124262 | deletion | NA19686 | SNP array | SNP genotyping analysis | 1 | 136 |
| essv5126286 | deletion | NA12752 | SNP array | SNP genotyping analysis | 1 | 144 |
| essv5134445 | deletion | NA12761 | SNP array | SNP genotyping analysis | 1 | 133 |
| essv5144133 | deletion | NA20879 | SNP array | SNP genotyping analysis | 1 | 130 |
| essv5147010 | deletion | NA19727 | SNP array | SNP genotyping analysis | 1 | 117 |
| essv5154908 | deletion | NA19684 | SNP array | SNP genotyping analysis | 1 | 138 |
| essv5158732 | deletion | NA12005 | SNP array | SNP genotyping analysis | 1 | 128 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5015079 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5029521 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5031088 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5050650 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5058198 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5070530 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5073188 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5075364 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5087955 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5094889 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5104275 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5124262 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5126286 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5134445 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5144133 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5147010 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5154908 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5158732 | Remapped | Good | NW_018654717.1:g.( ?_4146556)_(415516 7_?)del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 4,146,556 | 4,155,167 |
| essv5015079 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5029521 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5031088 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5050650 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5058198 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5070530 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5073188 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5075364 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5087955 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5094889 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5104275 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5124262 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5126286 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5134445 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5144133 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5147010 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5154908 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5158732 | Remapped | Perfect | NC_000008.11:g.(?_ 9196404)_(9205016_ ?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 9,196,404 | 9,205,016 |
| essv5015079 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5029521 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5031088 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5050650 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5058198 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5070530 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5073188 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5075364 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5087955 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5094889 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5104275 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5124262 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5126286 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5134445 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5144133 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5147010 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5154908 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5158732 | Remapped | Perfect | NC_000008.10:g.(?_ 9053914)_(9062526_ ?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 9,053,914 | 9,062,526 |
| essv5015079 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5029521 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5031088 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5050650 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5058198 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5070530 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5073188 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5075364 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5087955 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5094889 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5104275 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5124262 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5126286 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5134445 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5144133 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5147010 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5154908 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 | ||
| essv5158732 | Submitted genomic | NC_000008.9:g.(?_9 091324)_(9099936_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 9,091,324 | 9,099,936 |