Variant DetailsVariant: esv3569007 | Internal ID | 18350519 | | Landmark | | | Location Information | | | Cytoband | 3q22.1 | | Allele length | | Assembly | Allele length | | hg38 | 8463 | | hg19 | 8463 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1408e212 | | Supporting Variants | essv9768360, essv9768359, essv9768332, essv9768350, essv9768343, essv9768329, essv9768353, essv9768362, essv9768355, essv9768357, essv9768335, essv9768340, essv9768361, essv9768351, essv9768325, essv9768337, essv9768339, essv9768344, essv9768327, essv9768352, essv9768336, essv9768358, essv9768326, essv9768328, essv9768354, essv9768347, essv9768349, essv9768346, essv9768331, essv9768324, essv9768338, essv9768330, essv9768333, essv9768348, essv9768341, essv9768342 | | Samples | 400063BR, 400534ME, 401734PG, 40031BA, 401415CB, 401403TD, 400852WJ, 401698SB, 401949MN, 401253MC, 401936BA, 401551MB, 400674CA, 401926MR, 400482MD, 402064DC, 401687LR, 401214BJ, 401364NA, 400460DM, 401165SB, 401855RE, 400344DR, 401746WW, 401348RB, 401606CG, 400171BJ, 401444LD, 401795SP, 400053LE, 401056TJ, 401554VN, 400079AP, 400942HR, 400923OA, 401111LH | | Known Genes | SRPRB | | 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) | esv3569007
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 36 | | Observed Complex | 0 | | Frequency | n/a |
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