Variant DetailsVariant: esv3583213 Internal ID | 18364725 | Landmark | | Location Information | | Cytoband | 19p13.3 | Allele length | Assembly | Allele length | hg38 | 10591 | hg19 | 10591 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv9816519, essv9816515, essv9816517, essv9816518, essv9816528, essv9816516, essv9816523, essv9816514, essv9816513, essv9816527, essv9816522, essv9816529, essv9816520, essv9816525, essv9816526, essv9816524 | Samples | 400094RS, 400313DF, 400834SS, 400325BE, 400669LD, 402038MR, 401726LW, 400615RI, 400838AM, 401586RS, 401813DN, 400354TJ, 400201PK, 400267GD, 400833BB, 400291VJ | Known Genes | LOC100128568, RFX2 | 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) | esv3583213
| Frequency | Sample Size | 873 | Observed Gain | 0 | Observed Loss | 16 | Observed Complex | 0 | Frequency | n/a |
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