A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv654e212



Internal ID20149110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73529057..73564330hg38UCSC Ensembl
chr14:73995761..74031034hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3835274
hg1935274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581293, esv3581299, esv3581289, esv3581300
Samples401117NA, 401845MJ, 400493KH, 400620MT, 401308LD, 400155CW, 400882DD, 400749VW, 401831TW, 401977ES, 400791GC, 400800MW, 400886MP, 400362TV, 400158FB, 400376SJ, 401894PD, 402042BJ
Known GenesACOT1, HEATR4
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)dgv654e212
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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