Variant DetailsVariant: esv3568819 | Internal ID | 18697017 | | Landmark | | | Location Information | | | Cytoband | 3p14.1 | | Allele length | | Assembly | Allele length | | hg38 | 24515 | | hg19 | 24515 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1383e212 | | Supporting Variants | essv9767238, essv9767197, essv9767254, essv9767242, essv9767208, essv9767255, essv9767249, essv9767294, essv9767251, essv9767220, essv9767227, essv9767268, essv9767274, essv9767196, essv9767257, essv9767246, essv9767288, essv9767270, essv9767265, essv9767263, essv9767203, essv9767237, essv9767235, essv9767282, essv9767243, essv9767199, essv9767250, essv9767204, essv9767221, essv9767229, essv9767281, essv9767224, essv9767252, essv9767296, essv9767273, essv9767264, essv9767239, essv9767286, essv9767259, essv9767276, essv9767258, essv9767293, essv9767218, essv9767248, essv9767240, essv9767215, essv9767219, essv9767228, essv9767241, essv9767291, essv9767284, essv9767262, essv9767216, essv9767209, essv9767283, essv9767285, essv9767194, essv9767206, essv9767295, essv9767232, essv9767271, essv9767230, essv9767277, essv9767275, essv9767205, essv9767261, essv9767225, essv9767198, essv9767244, essv9767266, essv9767213, essv9767279, essv9767222, essv9767214, essv9767226, essv9767210, essv9767280, essv9767233, essv9767195, essv9767287, essv9767217, essv9767231, essv9767211, essv9767260, essv9767253, essv9767272, essv9767207, essv9767236, essv9767292, essv9767290, essv9767269, essv9767202, essv9767247 | | Samples | 401021SC, 400075MR, 401706BJ, 400599CP, 400987FB, 401005BL, 400105BB, 401146US, 400572PJ, 400468OB, 401503MJ, 400141CC, 401302LJ, 401457WK, 401931JL, 401733CG, 401603HH, 400199SA, 401602PR, 400277LM, 401426WD, 400797ST, 401022ML, 400558BL, 401253MC, 401064FR, 401924ST, 400718PS, 400669LD, 401842BJ, 400743LS, 401538NS, 401252AE, 400121PL, 401838EN, 400032RC, 400385LJ, 401303FM, 400836LK, 400717BD, 400507VD, 400186WC, 400929MM, 400843FL, 401726LW, 401900RJ, 401655DC, 401437MJ, 400738WM, 400791GC, 400207HN, 401950MD, 400660GK, 401853WR, 401084BD, 400171BJ, 401311GL, 401443JK, 400886MP, 400639RP, 401067BD, 401875FG, 400846MC, 400721DJ, 401112LG, 400518MS, 400329HJ, 400444MM, 400818BL, 401057SS, 400601WC, 400471YS, 400376SJ, 401025SM, 400677HD, 400069CN, 400128MJ, 400205SP, 401763SG, 401543DC, 401681MS, 400525MR, 401154BR, 400291VJ, 401969DR, 401882CR, 402024BB, 400238BB, 401517PR, 400668TD, 400532MH, 400494ML, 401068SD | | 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) | esv3568819
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 93 | | Observed Complex | 0 | | Frequency | n/a |
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