Variant DetailsVariant: esv3573312 | Internal ID | 18701510 | | Landmark | | | Location Information | | | Cytoband | 9q31.1 | | Allele length | | Assembly | Allele length | | hg38 | 17638 | | hg19 | 17638 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2172e212 | | Supporting Variants | essv9791274, essv9791262, essv9791279, essv9791305, essv9791302, essv9791280, essv9791293, essv9791273, essv9791301, essv9791255, essv9791251, essv9791247, essv9791266, essv9791277, essv9791257, essv9791310, essv9791270, essv9791261, essv9791282, essv9791249, essv9791283, essv9791308, essv9791269, essv9791252, essv9791290, essv9791271, essv9791275, essv9791309, essv9791291, essv9791314, essv9791265, essv9791297, essv9791264, essv9791260, essv9791313, essv9791253, essv9791272, essv9791296, essv9791248, essv9791285, essv9791254, essv9791315, essv9791303, essv9791281, essv9791258, essv9791268, essv9791306, essv9791304, essv9791284, essv9791292, essv9791259, essv9791276, essv9791299, essv9791288, essv9791250, essv9791263, essv9791316, essv9791294, essv9791295, essv9791287, essv9791317, essv9791318, essv9791298, essv9791307, essv9791286 | | Samples | 401191MI, 400424LN, 401911FL, 400866RR, 401427CB, 400325BE, 401030GI, 401551MB, 400893ZE, 400669LD, 400743LS, 402065BG, 401184MM, 400307HW, 400564SN, 400729HC, 401347DH, 400383HL, 402063WM, 401084TD, 402033WD, 400783MJ, 401357MH, 401594MP, 400093BL, 401348RB, 401318AV, 400994HJ, 401630MK, 401943KA, 401478RD, 400681MC, 400547BS, 401262RR, 401075MN, 402054BD, 401812HG, 401086MD, 400869BK, 400278PD, 400454RE, 400728PB, 400158FB, 402009WP, 401881TJ, 401847RK, 401693RC, 401010HT, 401287CF, 400759FV, 401240ML, 400719TM, 401763SG, 401354KM, 400108BJ, 402023EC, 400261RN, 402042BJ, 401153HS, 400178RH, 400150SS, 400923OA, 400668TD, 400645KM, 401362ME | | Known Genes | | | 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) | esv3573312
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 65 | | Observed Complex | 0 | | Frequency | n/a |
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