A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv746e212



Internal ID20149202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66722549..66740039hg38UCSC Ensembl
chr15:67014887..67032377hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3817491
hg1917491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581753, esv3581754
Samples400325BE, 401674DD, 401906DT, 400356MC, 400817MB, 401550SP, 400983PV, 401331LJ, 402033WD, 401278DM, 400076LC, 400123WN, 401630MK, 400686BM, 401087SF, 401514BA, 401334DH, 400053LE, 401012TP, 400128MJ, 4000046CJ, 400238BB
Known GenesSMAD6
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)dgv746e212
Frequency
Sample Size873
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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