A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv330e212



Internal ID22783257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18927765..18940851hg38UCSC Ensembl
chr11:18949312..18962398hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3813087
hg1913087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578527, esv3578494, esv3578483, esv3578549, esv3578294, esv3578505, esv3578349, esv3578538, esv3578516
Samples400132HN, 401603HH, 401975VD, 401924ST, 401860TJ, 400038CK, 400110MD, 400043HC, 401778CB, 401763SG, 401969DR
Known GenesMRGPRX1
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)dgv330e212
Frequency
Sample Size873
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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