A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579795



Internal ID18707993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88550304..88552863hg38UCSC Ensembl
Innerchr11:88283472..88286031hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg382560
hg192560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv401e212
Supporting Variantsessv9798525, essv9798528, essv9798530, essv9798527, essv9798524, essv9798529, essv9798526
Samples400132HN, 401249TP, 400073HT, 401155ML, 401939GD, 400248JO, 401365DJ
Known GenesGRM5
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)esv3579795
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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