Variant DetailsVariant: esv3571451 | Internal ID | 18699649 | | Landmark | | | Location Information | | | Cytoband | 6q25.1 | | Allele length | | Assembly | Allele length | | hg38 | 7698 | | hg19 | 7698 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv1839e212 | | Supporting Variants | essv9782263, essv9782273, essv9782309, essv9782145, essv9782109, essv9782233, essv9782264, essv9782167, essv9782162, essv9782303, essv9782214, essv9782117, essv9782287, essv9782243, essv9782210, essv9782115, essv9782272, essv9782222, essv9782238, essv9782124, essv9782288, essv9782187, essv9782178, essv9782206, essv9782134, essv9782113, essv9782276, essv9782150, essv9782218, essv9782112, essv9782235, essv9782257, essv9782294, essv9782253, essv9782182, essv9782227, essv9782132, essv9782193, essv9782216, essv9782131, essv9782171, essv9782153, essv9782185, essv9782116, essv9782189, essv9782269, essv9782138, essv9782219, essv9782160, essv9782146, essv9782248, essv9782183, essv9782280, essv9782237, essv9782184, essv9782121, essv9782246, essv9782154, essv9782148, essv9782282, essv9782161, essv9782119, essv9782260, essv9782266, essv9782211, essv9782292, essv9782169, essv9782250, essv9782259, essv9782221, essv9782232, essv9782244, essv9782125, essv9782213, essv9782140, essv9782274, essv9782281, essv9782286, essv9782291, essv9782270, essv9782168, essv9782313, essv9782147, essv9782180, essv9782159, essv9782225, essv9782179, essv9782137, essv9782196, essv9782135, essv9782298, essv9782229, essv9782203, essv9782149, essv9782209, essv9782130, essv9782299, essv9782261, essv9782192, essv9782128, essv9782308, essv9782283, essv9782181, essv9782297, essv9782186, essv9782129, essv9782240, essv9782126, essv9782224, essv9782254, essv9782239, essv9782157, essv9782207, essv9782306, essv9782285, essv9782258, essv9782265, essv9782252, essv9782120, essv9782275, essv9782118, essv9782305, essv9782236, essv9782295, essv9782277, essv9782142, essv9782279, essv9782141, essv9782176, essv9782152, essv9782241, essv9782194, essv9782175, essv9782114, essv9782293, essv9782284, essv9782215, essv9782307, essv9782191, essv9782205, essv9782163, essv9782172, essv9782271, essv9782301, essv9782296, essv9782164, essv9782242, essv9782217, essv9782304, essv9782228, essv9782190, essv9782174, essv9782262, essv9782231, essv9782251, essv9782268, essv9782136, essv9782220, essv9782151, essv9782143, essv9782123, essv9782197, essv9782156, essv9782204, essv9782158, essv9782310, essv9782198, essv9782290, essv9782208, essv9782247, essv9782230, essv9782195, essv9782170, essv9782127, essv9782226, essv9782302, essv9782165, essv9782255, essv9782202, essv9782139, essv9782110, essv9782249 | | Samples | 401749DJ, 401465TB, 400618GC, 400987FB, 400926LJ, 400439IM, 401489CB, 401400NP, 400554WB, 400455SJ, 401285HN, 400594VJ, 401956DQ, 400313DF, 400101EH, 401673DM, 400468OB, 400294HD, 400429YF, 400230TB, 401117NA, 401518VK, 401299ST, 400083TG, 400866RR, 400221VM, 400068PW, 400949AM, 401719RL, 400655WB, 400730SH, 401845MJ, 400553PP, 400325BE, 401721CP, 401949MN, 400641WJ, 401674DD, 400340CD, 401536BD, 401402EN, 401030GI, 400953MR, 401190WC, 400379BB, 400241CP, 400360SM, 401990PR, 401064FR, 402019MC, 401281BP, 400631SJ, 401869BG, 400503HD, 401908YM, 400203NA, 402065BG, 400148MS, 400073HT, 401401BA, 400526DR, 400307HW, 400356MC, 401766MR, 400427SD, 401038LN, 400385LJ, 400564SN, 400478WE, 400333CC, 401746WW, 401773AM, 400582WS, 400107MJ, 400109LJ, 401620BA, 401386WA, 401785MJ, 401725MR, 400302HW, 401331LJ, 400515ZG, 401900RJ, 400533BB, 400870KC, 401274PA, 400110MD, 400070PC, 401477ST, 400207HN, 401950MD, 401230NL, 400660GK, 400240HJ, 400285FA, 401119DK, 400960TN, 401652HL, 401278DM, 401519SA, 400543CK, 400381CA, 401968HL, 401879HJ, 401563TK, 400265LK, 401930GD, 401771OS, 4000657TM, 400361HC, 401444LD, 402022SM, 400888MS, 400886MP, 400047DS, 400211BJ, 400603CJ, 400978JG, 400869BK, 400014SL, 401369GR, 401200BD, 400598DA, 400571WV, 400721DJ, 401514BA, 400518MS, 400274TL, 400430KV, 400943DV, 400818BL, 400201PK, 400654YW, 400837HN, 400624RJ, 401595BL, 400732MA, 401898DS, 400770MA, 401016IT, 400156WT, 402051AF, 400295PS, 401894PD, 401314MK, 402048WB, 400971MK, 401265CB, 400586RD, 401567BD, 401240ML, 401166WJ, 401152MV, 402008MC, 402073LQ, 401817MC, 401358VP, 401354KM, 400130HA, 401250WD, 400173KP, 400108BJ, 400084DM, 401735LE, 401554VN, 400508RD, 402042BJ, 401628GC, 401458RT, 401284NA, 400178RH, 400079AP, 400164SS, 400012CJ, 401612HB, 400540BM, 400238BB, 400942HR, 400923OA, 400532MH, 400704LC, 400982BS | | Known Genes | PPP1R14C | | 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) | esv3571451
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 182 | | Observed Complex | 0 | | Frequency | n/a |
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