Variant DetailsVariant: esv3569866 | Internal ID | 18698064 | | Landmark | | | Location Information | | | Cytoband | 4q35.1 | | Allele length | | Assembly | Allele length | | hg38 | 13176 | | hg19 | 13176 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1554e212 | | Supporting Variants | essv9773383, essv9773349, essv9773391, essv9773385, essv9773407, essv9773409, essv9773384, essv9773393, essv9773358, essv9773412, essv9773406, essv9773371, essv9773348, essv9773374, essv9773396, essv9773408, essv9773373, essv9773365, essv9773386, essv9773381, essv9773401, essv9773351, essv9773380, essv9773363, essv9773346, essv9773394, essv9773377, essv9773357, essv9773375, essv9773361, essv9773369, essv9773376, essv9773388, essv9773355, essv9773398, essv9773402, essv9773350, essv9773360, essv9773362, essv9773387, essv9773392, essv9773370, essv9773410, essv9773372, essv9773359, essv9773379, essv9773403, essv9773352, essv9773347, essv9773404, essv9773395, essv9773353, essv9773397, essv9773390, essv9773399, essv9773368, essv9773405, essv9773366, essv9773364, essv9773382, essv9773354 | | Samples | 400920MK, 401706BJ, 400908PJ, 400926LJ, 400572PJ, 401261HD, 400313DF, 400512LR, 400906BR, 400866RR, 400221VM, 401079HJ, 401719RL, 401442WR, 401151RJ, 400899NK, 400629BM, 400325BE, 400340CD, 401402EN, 401355CD, 400493KH, 401551MB, 401390DG, 400438DB, 401281BP, 400051MR, 401006ES, 400061DE, 400231LP, 401672FD, 400320RN, 401550SP, 400729HC, 401739BJ, 401234MB, 400060MC, 400929MM, 400663MD, 400977SC, 401444LD, 401067BD, 400846MC, 401711WS, 401702GB, 400354TJ, 401700BN, 400030WD, 401288LD, 400792RE, 401358VP, 401607LL, 400315DA, 400833BB, 401836SI, 400581VJ, 400178RH, 400238BB, 400152MR, 400494ML, 401102RD | | Known Genes | SORBS2 | | 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) | esv3569866
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 61 | | Observed Complex | 0 | | Frequency | n/a |
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