Variant DetailsVariant: esv3584528Internal ID | 18423312 | Landmark | | Location Information | | Cytoband | 5p13.3 | Allele length | Assembly | Allele length | hg38 | 51376 | hg19 | 51376 | hg18 | 51376 |
| Variant Type | CNV gain | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9838677, essv9838675, essv9838676 | Samples | OA012, OA092, OA013 | Known Genes | GOLPH3, PDZD2 | Method | SNP array | Analysis | We applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres. | Platform | Affymetrix Genome-Wide Human SNP Array 6.0 | Comments | | Reference | Mokhtar_et_al_2014 | Pubmed ID | 24956385 | Accession Number(s) | esv3584528
| Frequency | Sample Size | 34 | Observed Gain | 3 | Observed Loss | 0 | Observed Complex | 0 | Frequency | n/a |
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