A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1880e212



Internal ID22784807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33086050..33150400hg38UCSC Ensembl
chr7:33125662..33190012hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3864351
hg1964351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576302, esv3576303, esv3576304
Samples401079HJ, 400653GP, 401764JJ, 401879HJ, 402001SR
Known GenesBBS9, RP9
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)dgv1880e212
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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