Variant DetailsVariant: esv3570077Internal ID | 18351589 | Landmark | | Location Information | | Cytoband | 5p13.2 | Allele length | Assembly | Allele length | hg38 | 16348 | hg19 | 16348 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | dgv1593e212 | Supporting Variants | essv9774530, essv9774535, essv9774528, essv9774536, essv9774531, essv9774532, essv9774537, essv9774529 | Samples | 401852SK, 400114GR, 400970VE, 401019MP, 400788PV, 400274TL, 401288LD, 401607LL | Known Genes | GDNF, GDNF-AS1 | Method | SNP array | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | Platform | Affymetrix CytoScan HD 2.7M array | Comments | | Reference | Uddin_et_al_2014 | Pubmed ID | 25503493 | Accession Number(s) | esv3570077
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 8 | Observed Complex | 0 | Frequency | n/a |
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