A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1925e212



Internal ID22784852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75720041..75749395hg38UCSC Ensembl
chr7:75349359..75378713hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3829355
hg1929355
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576387, esv3576386, esv3576390, esv3576381, esv3576391, esv3576392, esv3576380, esv3576389
Samples401706BJ, 400439IM, 400821FE, 400876OG, 400512LR, 401036WS, 400141CC, 401719RL, 400834SS, 401820SD, 400606HW, 402064DC, 401006ES, 401239PR, 401726LW, 400660GK, 401494PD, 401586RS, 401879HJ, 401443JK, 400639RP, 401025SM, 400235MP, 401861GG, 401152MV, 400982BS, 401482CB
Known GenesHIP1
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)dgv1925e212
Frequency
Sample Size873
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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