esv2421925
- Organism: Homo sapiens
- Study:estd195 (Altshuler et al. 2010)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:217,240
- 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: 1313 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1313 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 406 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv2421925 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| esv2421925 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| esv2421925 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| essv5026478 | deletion | NA18975 | SNP array | SNP genotyping analysis | 1 | 141 |
| essv5040633 | deletion | NA18981 | SNP array | SNP genotyping analysis | 1 | 124 |
| essv5063265 | deletion | NA19002 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5063692 | deletion | NA18101 | SNP array | SNP genotyping analysis | 1 | 140 |
| essv5071189 | deletion | NA18542 | SNP array | SNP genotyping analysis | 1 | 132 |
| essv5078526 | deletion | NA18158 | SNP array | SNP genotyping analysis | 1 | 128 |
| essv5103107 | deletion | NA17977 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5131558 | deletion | NA18954 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5146478 | deletion | NA18552 | SNP array | SNP genotyping analysis | 1 | 143 |
| essv5150416 | deletion | NA18967 | SNP array | SNP genotyping analysis | 1 | 123 |
| essv5151080 | deletion | NA18562 | SNP array | SNP genotyping analysis | 1 | 137 |
| essv5158877 | deletion | NA18154 | SNP array | SNP genotyping analysis | 1 | 126 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv5026478 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5040633 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5063265 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5063692 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5071189 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5078526 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5103107 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5131558 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5146478 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5150416 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5151080 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5158877 | Remapped | Perfect | NC_000001.11:g.(?_ 189357207)_(189574 446_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 189,357,207 | 189,574,446 |
| essv5026478 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5040633 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5063265 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5063692 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5071189 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5078526 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5103107 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5131558 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5146478 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5150416 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5151080 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5158877 | Remapped | Perfect | NC_000001.10:g.(?_ 189326337)_(189543 576_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 189,326,337 | 189,543,576 |
| essv5026478 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5040633 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5063265 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5063692 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5071189 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5078526 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5103107 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5131558 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5146478 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5150416 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5151080 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 | ||
| essv5158877 | Submitted genomic | NC_000001.9:g.(?_1 87592960)_(1878101 99_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 187,592,960 | 187,810,199 |