A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv156e212



Internal ID22783083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236206561..236219922hg38UCSC Ensembl
chr1:236369861..236383222hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3813362
hg1913362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578489, esv3578488
Samples400739SS, 401403TD, 401013GJ, 401027KW, 401513KC, 400686BM, 400586RD, 401817MC, 400150SS
Known GenesERO1LB, GPR137B
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)dgv156e212
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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