A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1824e212



Internal ID22784751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110073402..110094212hg38UCSC Ensembl
chr6:110394605..110415415hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3820811
hg1920811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571356, esv3571353, esv3571351, esv3571358, esv3571352, esv3571355, esv3571357
Samples401191MI, 401636WR, 400247CL, 400572PJ, 401460LW, 400949AM, 400899NK, 401030GI, 401695BT, 401908YM, 402012RR, 400292LP, 400478WE, 401997HB, 401726LW, 401913GT, 400978JG, 401039PA, 400030WD, 401552BK, 401143LK, 400108BJ, 401040KM, 401510DG, 400982BS
Known Genes
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)dgv1824e212
Frequency
Sample Size873
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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