| Internal ID | 12624689 |
| Landmark | |
| Location Information | |
| Cytoband | 7q11.23 |
| Allele length | | Assembly | Allele length | | hg38 | 221345 | | hg19 | 221345 | | hg18 | 221345 |
|
| Variant Type | CNV loss |
| Copy Number | |
| Allele State | |
| Allele Origin | |
| Probe Count | |
| Validation Flag | |
| Merged Status | S |
| Merged Variants | esv34102 |
| Supporting Variants | |
| Samples | |
| Known Genes | CCDC146, DTX2P1-UPK3BP1-PMS2P11, FGL2, LOC100132832 |
| Method | SNP array |
| Analysis | We further explored the discovery of segmental deletions in the Kosraean population data where IBD is more prevalent, and we observe a larger number of gaps.We used a binomial score to rank potential deletions in homozygous gaps based on the number of mismatching SNPs and the rate of mismatch in the flanking shared segments, measured across all shared segments with the suspected gap. To prioritize the segmental gaps that were most likely to be representative of a deletion, we developed a scoring function based on the number of mismatching SNPs and levels of homozygosity in the gap. |
| Platform | Not reported |
| Comments | |
| Reference | Gusev_et_al_2009 |
| Pubmed ID | 18971310 |
| Accession Number(s) | essv6990608
|
| Frequency | | Sample Size | 270 | | Observed Gain | 0 | | Observed Loss | 1 | | Observed Complex | 0 | | Frequency | n/a |
|
