A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1254e212



Internal ID20149710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54065058..54070192hg38UCSC Ensembl
chr20:52681597..52686731hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385135
hg195135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568069, esv3568070
Samples400683EC, 400094RS, 401979TB, 401359HF, 401149VA, 401927SK, 401354KM, 400849SH, 400353ML, 401506LK, 401894PD, 400053LE, 401518VK, 401994BD, 401235IA, 401284NA, 400338SR, 401997HB, 401113MJ, 401908YM
Known GenesBCAS1, MIR4756
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)dgv1254e212
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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