Variant DetailsVariant: esv3583333 | Internal ID | 18364845 | | Landmark | | | Location Information | | | Cytoband | 19q12 | | Allele length | | Assembly | Allele length | | hg38 | 9354 | | hg19 | 9354 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1034e212 | | Supporting Variants | essv9817186, essv9817153, essv9817297, essv9817247, essv9817204, essv9817149, essv9817154, essv9817158, essv9817278, essv9817236, essv9817207, essv9817152, essv9817191, essv9817212, essv9817264, essv9817170, essv9817164, essv9817162, essv9817295, essv9817267, essv9817194, essv9817241, essv9817290, essv9817237, essv9817160, essv9817196, essv9817239, essv9817263, essv9817280, essv9817178, essv9817249, essv9817148, essv9817265, essv9817285, essv9817223, essv9817292, essv9817187, essv9817240, essv9817230, essv9817192, essv9817173, essv9817291, essv9817271, essv9817228, essv9817250, essv9817184, essv9817284, essv9817175, essv9817190, essv9817289, essv9817165, essv9817259, essv9817253, essv9817183, essv9817229, essv9817293, essv9817283, essv9817294, essv9817206, essv9817195, essv9817231, essv9817286, essv9817257, essv9817215, essv9817161, essv9817219, essv9817169, essv9817234, essv9817232, essv9817168, essv9817208, essv9817258, essv9817270, essv9817224, essv9817287, essv9817201, essv9817157, essv9817235, essv9817296, essv9817275, essv9817213, essv9817210, essv9817179, essv9817254, essv9817238, essv9817151, essv9817185, essv9817262, essv9817193, essv9817216, essv9817248, essv9817251, essv9817273, essv9817281, essv9817156, essv9817174, essv9817245, essv9817171, essv9817227, essv9817221, essv9817202, essv9817214, essv9817276, essv9817217, essv9817282, essv9817182, essv9817268, essv9817298, essv9817274, essv9817261, essv9817260, essv9817205, essv9817243, essv9817176, essv9817163, essv9817203, essv9817198, essv9817181, essv9817167, essv9817225, essv9817197, essv9817279, essv9817242, essv9817150, essv9817159, essv9817246, essv9817209, essv9817180, essv9817226, essv9817256, essv9817252, essv9817220, essv9817218, essv9817189, essv9817272, essv9817172, essv9817269 | | Samples | 400618GC, 401196CR, 400204SC, 401852SK, 400619MP, 400268SY, 400789KV, 400132HN, 400876OG, 401487FW, 400626FC, 400683EC, 401498HH, 401330RR, 401117NA, 401036WS, 400083TG, 400595CP, 401491BB, 401931JL, 401468RL, 400059SV, 400948EV, 401536BD, 401551MB, 401064FR, 400827MM, 401924ST, 401926MR, 401297KC, 402028BD, 400227MM, 400066MA, 401869BG, 401239PR, 402038MR, 400688FL, 400231LP, 400127MD, 401364NA, 401596PJ, 400206SC, 400609FJ, 401818PC, 400717BD, 402029KJ, 400582WS, 401406KF, 400270BD, 400186WC, 400109LJ, 401192MJ, 400733SW, 401377MA, 401764JJ, 401785MJ, 400302HW, 400007RG, 400974PS, 400236DB, 401591BE, 401251WN, 401870FB, 401499JR, 401477ST, 401736BF, 400838AM, 402052ZA, 400768MN, 400285FA, 401210PB, 401526WB, 400375KA, 401519SA, 400829MR, 401326LI, 401942MP, 400050RL, 401619BT, 401478RD, 400361HC, 400171BJ, 401952UH, 401444LD, 402022SM, 401017SC, 401812HG, 401087SF, 400854SG, 401889FR, 400211BJ, 401981GF, 400978JG, 400371GA, 401795SP, 400450FG, 401778CB, 40050SB, 401112LG, 400695PH, 400177CG, 400201PK, 401361GG, 401898DS, 400103BN, 400156WT, 400246MG, 400677HD, 401611CD, 401054VM, 400267GD, 401265CB, 400586RD, 400930MK, 401056TJ, 400323AA, 401797LS, 401817MC, 400106PC, 401354KM, 400315DA, 400084DM, 401735LE, 401040KM, 400261RN, 401458RT, 400266BA, 401453OL, 400661AD, 400150SS, 401480PG, 400238BB, 400255CD, 400234CA, 401068SD, 401207DA, 401482CB | | Known Genes | UQCRFS1 | | 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) | esv3583333
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 137 | | Observed Complex | 0 | | Frequency | n/a |
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