A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv304e212



Internal ID19007512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133419886..133586746hg38UCSC Ensembl
chr10:135233390..135400250hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38166861
hg19166861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577939, esv3577928, esv3577994, esv3578039, esv3578061, esv3578016, esv3577972, esv3577983, esv3577961, esv3577950, esv3578028, esv3578072, esv3578083, esv3578005, esv3578050, esv3577917
Samples401052BM, 400312CR, 401017SC, 400843FL, 401495NR, 401892MJ, 400313DF, 400622SJ, 401504RJ, 401175FA, 401318AV, 400540BM, 401519SA, 401922MW, 400451kh, 401346FJ, 401792KR, 400743LS, 400897MD, 401077VC, 400719TM, 402023EC, 400523GB, 401239PR, 400059SV, 401112LG, 400429YF, 400439IM, 400785AK, 400634MP, 401365DJ, 400073HT, 400013TA, 401135CS, 401855RE, 401591BE, 401513KC, 400827MM
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
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)dgv304e212
Frequency
Sample Size873
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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