A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570217



Internal ID18698415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78813353..78821544hg38UCSC Ensembl
Innerchr5:78109176..78117367hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388192
hg198192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1619e212
Supporting Variantsessv9775383, essv9775416, essv9775397, essv9775401, essv9775406, essv9775418, essv9775402, essv9775392, essv9775423, essv9775386, essv9775407, essv9775395, essv9775420, essv9775403, essv9775431, essv9775385, essv9775394, essv9775396, essv9775405, essv9775387, essv9775424, essv9775412, essv9775393, essv9775417, essv9775409, essv9775400, essv9775425, essv9775408, essv9775384, essv9775427, essv9775404, essv9775413, essv9775389, essv9775430, essv9775414, essv9775398, essv9775411, essv9775415, essv9775428, essv9775390, essv9775426, essv9775429, essv9775391, essv9775419
Samples400359OR, 400649PS, 401420PJ, 401366WD, 400468OB, 401117NA, 400995MS, 401457WK, 400629BM, 400425SL, 400658BW, 401975VD, 400827MM, 401924ST, 400600DP, 400134WK, 400688FL, 401401BA, 400817MB, 400427SD, 400060MC, 400352CA, 401085LA, 400738WM, 400977SC, 401717LP, 400093BL, 400375KA, 401333MM, 400681MC, 401017SC, 400854SG, 400524NJ, 400371GA, 401700BN, 401914PR, 401496SL, 400053LE, 401315HK, 401881TJ, 402060PD, 401250WD, 400835FD, 400833BB
Known GenesARSB
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)esv3570217
Frequency
Sample Size873
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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