esv3692772
- Organism: Homo sapiens
- Study:estd221 (Palta et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,751
- 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: 1252 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1252 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 496 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 |
|---|---|---|---|---|---|---|---|---|---|
| esv3692772 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 4,102,189 | 4,163,939 |
| esv3692772 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 4,143,873 | 4,205,623 |
| esv3692772 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 4,118,873 | 4,180,623 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| essv16507366 | copy number loss | NA19127 | SNP array | Probe signal intensity | Healthy individuals | 1 | 22 |
| essv16509060 | copy number loss | NA19098 | SNP array | Probe signal intensity | Healthy individuals | 1 | 20 |
| essv16507447 | copy number loss | NA19143 | SNP array | Probe signal intensity | Healthy individuals | 1 | 23 |
| essv16508174 | copy number loss | NA19100 | SNP array | Probe signal intensity | Healthy individuals | 1 | 21 |
| essv16508587 | copy number loss | NA19145 | SNP array | Probe signal intensity | Healthy individuals | 1 | 20 |
| essv16508763 | copy number loss | NA19099 | SNP array | Probe signal intensity | Healthy individuals | 1 | 17 |
| essv16508826 | copy number loss | NA19132 | SNP array | Probe signal intensity | Healthy individuals | 1 | 24 |
| essv16509299 | copy number loss | NA19131 | SNP array | Probe signal intensity | Healthy individuals | 1 | 37 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv16507366 | Remapped | Perfect | NC_000003.12:g.(?_ 4102189)_(4163939_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,102,189 | 4,163,939 |
| essv16509060 | Remapped | Perfect | NC_000003.12:g.(?_ 4102189)_(4163939_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,102,189 | 4,163,939 |
| essv16507447 | Remapped | Perfect | NC_000003.12:g.(?_ 4151816)_(4153881_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,151,816 | 4,153,881 |
| essv16508174 | Remapped | Perfect | NC_000003.12:g.(?_ 4151816)_(4153881_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,151,816 | 4,153,881 |
| essv16508587 | Remapped | Perfect | NC_000003.12:g.(?_ 4151816)_(4153881_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,151,816 | 4,153,881 |
| essv16508763 | Remapped | Perfect | NC_000003.12:g.(?_ 4151816)_(4153881_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,151,816 | 4,153,881 |
| essv16508826 | Remapped | Perfect | NC_000003.12:g.(?_ 4151816)_(4153881_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,151,816 | 4,153,881 |
| essv16509299 | Remapped | Perfect | NC_000003.12:g.(?_ 4151816)_(4153881_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 4,151,816 | 4,153,881 |
| essv16507366 | Remapped | Perfect | NC_000003.11:g.(?_ 4143873)_(4205623_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,143,873 | 4,205,623 |
| essv16509060 | Remapped | Perfect | NC_000003.11:g.(?_ 4143873)_(4205623_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,143,873 | 4,205,623 |
| essv16507447 | Remapped | Perfect | NC_000003.11:g.(?_ 4193500)_(4195565_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,193,500 | 4,195,565 |
| essv16508174 | Remapped | Perfect | NC_000003.11:g.(?_ 4193500)_(4195565_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,193,500 | 4,195,565 |
| essv16508587 | Remapped | Perfect | NC_000003.11:g.(?_ 4193500)_(4195565_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,193,500 | 4,195,565 |
| essv16508763 | Remapped | Perfect | NC_000003.11:g.(?_ 4193500)_(4195565_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,193,500 | 4,195,565 |
| essv16508826 | Remapped | Perfect | NC_000003.11:g.(?_ 4193500)_(4195565_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,193,500 | 4,195,565 |
| essv16509299 | Remapped | Perfect | NC_000003.11:g.(?_ 4193500)_(4195565_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 4,193,500 | 4,195,565 |
| essv16507366 | Submitted genomic | NC_000003.10:g.(?_ 4118873)_(4180623_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,118,873 | 4,180,623 | ||
| essv16509060 | Submitted genomic | NC_000003.10:g.(?_ 4118873)_(4180623_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,118,873 | 4,180,623 | ||
| essv16507447 | Submitted genomic | NC_000003.10:g.(?_ 4168500)_(4170565_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,168,500 | 4,170,565 | ||
| essv16508174 | Submitted genomic | NC_000003.10:g.(?_ 4168500)_(4170565_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,168,500 | 4,170,565 | ||
| essv16508587 | Submitted genomic | NC_000003.10:g.(?_ 4168500)_(4170565_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,168,500 | 4,170,565 | ||
| essv16508763 | Submitted genomic | NC_000003.10:g.(?_ 4168500)_(4170565_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,168,500 | 4,170,565 | ||
| essv16508826 | Submitted genomic | NC_000003.10:g.(?_ 4168500)_(4170565_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,168,500 | 4,170,565 | ||
| essv16509299 | Submitted genomic | NC_000003.10:g.(?_ 4168500)_(4170565_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 4,168,500 | 4,170,565 |