esv3693298
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:80,095
- Publication(s):Palta et al. 2015
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: 918 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 918 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3693298 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 22,998,884 | 23,078,978 |
| esv3693298 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 24,371,206 | 24,451,300 |
| esv3693298 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 23,293,077 | 23,373,171 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16508925 | copy number loss | NA18501 | SNP array | Probe signal intensity | Healthy individuals | 1 | 32 |
| essv16508017 | copy number loss | NA18855 | SNP array | Probe signal intensity | Healthy individuals | 1 | 18 |
| essv16507632 | copy number loss | NA19161 | SNP array | Probe signal intensity | Healthy individuals | 1 | 26 |
| essv16509055 | copy number loss | NA18506 | SNP array | Probe signal intensity | Healthy individuals | 1 | 17 |
| essv16507097 | copy number loss | NA18856 | SNP array | Probe signal intensity | Healthy individuals | 1 | 23 |
| essv16507290 | copy number loss | NA19159 | SNP array | Probe signal intensity | Healthy individuals | 1 | 34 |
| essv16507674 | copy number loss | NA19139 | SNP array | Probe signal intensity | Healthy individuals | 1 | 34 |
| essv16507939 | copy number loss | NA19140 | SNP array | Probe signal intensity | Healthy individuals | 1 | 30 |
| essv16507985 | copy number loss | NA18912 | SNP array | Probe signal intensity | Healthy individuals | 1 | 30 |
| essv16508738 | copy number loss | NA18508 | SNP array | Probe signal intensity | Healthy individuals | 1 | 17 |
| essv16508869 | copy number loss | NA18857 | SNP array | Probe signal intensity | Healthy individuals | 1 | 23 |
| essv16509225 | copy number loss | NA19138 | SNP array | Probe signal intensity | Healthy individuals | 1 | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16508925 | Remapped | Perfect | NC_000021.9:g.(?_2 2998884)_(23023656 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 22,998,884 | 23,023,656 |
| essv16508017 | Remapped | Perfect | NC_000021.9:g.(?_2 3020764)_(23078978 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,020,764 | 23,078,978 |
| essv16507632 | Remapped | Perfect | NC_000021.9:g.(?_2 3050316)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,316 | 23,058,399 |
| essv16509055 | Remapped | Perfect | NC_000021.9:g.(?_2 3050316)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,316 | 23,058,399 |
| essv16507097 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16507290 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16507674 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16507939 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16507985 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16508738 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16508869 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16509225 | Remapped | Perfect | NC_000021.9:g.(?_2 3050984)_(23058399 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,050,984 | 23,058,399 |
| essv16508925 | Remapped | Perfect | NC_000021.8:g.(?_2 4371206)_(24395978 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,371,206 | 24,395,978 |
| essv16508017 | Remapped | Perfect | NC_000021.8:g.(?_2 4393086)_(24451300 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,393,086 | 24,451,300 |
| essv16507632 | Remapped | Perfect | NC_000021.8:g.(?_2 4422638)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,422,638 | 24,430,721 |
| essv16509055 | Remapped | Perfect | NC_000021.8:g.(?_2 4422638)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,422,638 | 24,430,721 |
| essv16507097 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16507290 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16507674 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16507939 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16507985 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16508738 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16508869 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16509225 | Remapped | Perfect | NC_000021.8:g.(?_2 4423306)_(24430721 _?)del | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 24,423,306 | 24,430,721 |
| essv16508925 | Submitted genomic | NC_000021.7:g.(?_2 3293077)_(23317849 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,293,077 | 23,317,849 | ||
| essv16508017 | Submitted genomic | NC_000021.7:g.(?_2 3314957)_(23373171 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,314,957 | 23,373,171 | ||
| essv16507632 | Submitted genomic | NC_000021.7:g.(?_2 3344509)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,344,509 | 23,352,592 | ||
| essv16509055 | Submitted genomic | NC_000021.7:g.(?_2 3344509)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,344,509 | 23,352,592 | ||
| essv16507097 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 | ||
| essv16507290 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 | ||
| essv16507674 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 | ||
| essv16507939 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 | ||
| essv16507985 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 | ||
| essv16508738 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 | ||
| essv16508869 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 | ||
| essv16509225 | Submitted genomic | NC_000021.7:g.(?_2 3345177)_(23352592 _?)del | NCBI36 (hg18) | NC_000021.7 | Chr21 | 23,345,177 | 23,352,592 |