Variant DetailsVariant: dgv1153e212 | Internal ID | 20149609 | | Landmark | | | Location Information | | | Cytoband | 2q11.2 | | Allele length | | Assembly | Allele length | | hg38 | 23772 | | hg19 | 23772 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | esv3583931, esv3583930, esv3583932, esv3583945, esv3583975, esv3583946, esv3583929, esv3583928, esv3583948, esv3583974, esv3583937, esv3583936 | | Samples | 401799DP, 400316SL, 400075MR, 401033DJ, 400308SP, 400649PS, 400145BL, 401292ER, 400204SC, 401212HJ, 400534ME, 400802DP, 401400NP, 400821FE, 400554WB, 401385BB, 400132HN, 400594VJ, 401261HD, 400377WJ, 401956DQ, 401077VC, 400468OB, 401972BA, 401415CB, 400230TB, 401321CE, 400221VM, 401966SR, 400995MS, 400141CC, 401783BD, 401491BB, 401457WK, 401845MJ, 401949MN, 401093VL, 401603HH, 400897MD, 400347VJ, 401500OM, 400523GB, 400241CP, 400893ZE, 401064FR, 400438DB, 401281BP, 400669LD, 401792KR, 400227MM, 400051MR, 401006ES, 400588BE, 401239PR, 401113MJ, 400882DD, 400337HG, 400231LP, 400127MD, 400022WA, 401364NA, 400583HS, 400033KC, 401832MC, 401566DD, 401664SD, 401155ML, 400817MB, 400564SN, 400353ML, 401198TI, 400836LK, 401773AM, 401791FG, 400113LD, 401406KF, 400270BD, 400929MM, 400041LJ, 400282RA, 401979TB, 401726LW, 401027KW, 400870KC, 401274PA, 400040CN, 402033WD, 401540NA, 401834CB, 401617KM, 401589HP, 400838AM, 400783MJ, 401594MP, 401119DK, 400960TN, 400122PL, 401652HL, 401278DM, 401862AN, 401348RB, 400829MR, 401475MK, 400076LC, 401419SW, 401930GD, 401762SD, 401943KA, 401478RD, 400705KK, 400681MC, 401311GL, 401262RR, 401087SF, 400886MP, 401889FR, 400371GA, 400248JO, 400422PN, 401580CA, 400319HT, 400258BC, 401940SJ, 400520FM, 400999HR, 401874DJ, 401259LS, 401176BD, 400788PV, 400274TL, 400030WD, 400444MM, 400624RJ, 400732MA, 400458LS, 400483DP, 400103BN, 400471YS, 401365DJ, 400881GS, 400156WT, 401844ZD, 401268PS, 401881TJ, 401847RK, 401277RA, 401552BK, 400759FV, 400501SJ, 401265CB, 400072GR, 400205SP, 4000046CJ, 401152MV, 400811SK, 400719TM, 400323AA, 401797LS, 400849SH, 401817MC, 401681MS, 401358VP, 401607LL, 400108BJ, 400013TA, 401177SL, 401458RT, 401453OL, 400661AD, 400079AP, 401882CR, 401480PG, 401254AE, 401066MM, 400138LA, 401068SD | | Known Genes | ANKRD36B | | 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) | dgv1153e212
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 176 | | Observed Complex | 0 | | Frequency | n/a |
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