A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576970



Internal ID18705168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:89415426..89429011hg38UCSC Ensembl
InnerchrX:88670425..88684010hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3813586
hg1913586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2330e212
Supporting Variantsessv9827469, essv9827479, essv9827408, essv9827467, essv9827401, essv9827470, essv9827434, essv9827448, essv9827419, essv9827435, essv9827453, essv9827403, essv9827440, essv9827436, essv9827430, essv9827486, essv9827449, essv9827478, essv9827462, essv9827485, essv9827393, essv9827439, essv9827441, essv9827423, essv9827484, essv9827480, essv9827426, essv9827402, essv9827456, essv9827412, essv9827413, essv9827438, essv9827391, essv9827428, essv9827447, essv9827437, essv9827397, essv9827432, essv9827414, essv9827482, essv9827394, essv9827475, essv9827463, essv9827459, essv9827407, essv9827417, essv9827476, essv9827483, essv9827400, essv9827452, essv9827395, essv9827409, essv9827398, essv9827396, essv9827465, essv9827473, essv9827415, essv9827425, essv9827487, essv9827468, essv9827420, essv9827454, essv9827472, essv9827464, essv9827411, essv9827481, essv9827445, essv9827424, essv9827458, essv9827450, essv9827431, essv9827442, essv9827457, essv9827446, essv9827451, essv9827405, essv9827474, essv9827427, essv9827418, essv9827416, essv9827461, essv9827460, essv9827471, essv9827406, essv9827392, essv9827404, essv9827443, essv9827429
Samples400287BP, 401706BJ, 401420PJ, 400880TM, 400534ME, 401640WJ, 401400NP, 400889CM, 401235IA, 400068PW, 401427CB, 401491BB, 400730SH, 401733CG, 401093VL, 401674DD, 400453LN, 400493KH, 400528LR, 401842BJ, 400066MA, 400503HD, 400526DR, 401566DD, 401838EN, 400650RM, 401831TW, 401303FM, 402029KJ, 401997HB, 401393JW, 400502GS, 400109LJ, 401739BJ, 400060MC, 400282RA, 401505WI, 401347DH, 400007RG, 401655DC, 400236DB, 401870FB, 401499JR, 401274PA, 401950MD, 401494PD, 401853WR, 401357MH, 401694SG, 401804FG, 401822TL, 401348RB, 400914ER, 400543CK, 401475MK, 401879HJ, 400265LK, 401813DN, 400123WN, 400686BM, 401952UH, 401812HG, 401039PA, 401587RC, 400135DR, 401514BA, 401410BJ, 401391PJ, 400483DP, 401365DJ, 401844ZD, 400376SJ, 401025SM, 401786WD, 401571SD, 401858TP, 401265CB, 400769SL, 400328LM, 400996MC, 401166WJ, 401797LS, 401829FJ, 401912HD, 400833BB, 401153HS, 400152MR, 401490TL
Known Genes
MethodSNP array
AnalysisWe 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.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3576970
Frequency
Sample Size873
Observed Gain88
Observed Loss0
Observed Complex0
Frequencyn/a


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