A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv634e212



Internal ID22783561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47237870..47248294hg38UCSC Ensembl
chr14:47707073..47717497hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3810425
hg1910425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581179, esv3581178, esv3581177
Samples401497PR, 401021SC, 401191MI, 400075MR, 401366WD, 401489CB, 400821FE, 400336BG, 400094RS, 400876OG, 401249TP, 401190WC, 401281BP, 401860TJ, 400134WK, 401214BJ, 400231LP, 400073HT, 401994BD, 400344DR, 400653GP, 401029SD, 401646MC, 401505WI, 401386WA, 400249BC, 400846MC, 401369GR, 400598DA, 401112LG, 400788PV, 401025SM, 401149VA, 401858TP, 401166WJ, 401135CS, 401763SG, 400792RE, 400106PC, 400084DM, 401453OL
Known GenesMDGA2
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)dgv634e212
Frequency
Sample Size873
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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