| Internal ID | 15388216 |
| Landmark | |
| Location Information | |
| Cytoband | 3p11.1 |
| Allele length | | Assembly | Allele length | | hg38 | 232385 | | hg19 | 232385 | | hg18 | 232385 | | hg16 | 232385 |
|
| Variant Type | CNV loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | M |
| Merged Variants | |
| Supporting Variants | nssv471291, nssv471293, nssv471294, nssv471292 |
| Samples | NA12761, NA19007, NA12752 |
| Known Genes | EPHA3 |
| Method | SNP array |
| Analysis | Hardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
Mendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
Null genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals. |
| Platform | Not reported |
| Comments | |
| Reference | McCarroll_et_al_2006 |
| Pubmed ID | 16468122 |
| Accession Number(s) | nsv437866
|
| Frequency | | Sample Size | 269 | | Observed Gain | 0 | | Observed Loss | 3 | | Observed Complex | 0 | | Frequency | n/a |
|
