A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570971



Internal ID18352483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32396111..32415282hg38UCSC Ensembl
Innerchr6:32363888..32383059hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3819172
hg1919172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9778963, essv9778962
Samples400879DS, 401117NA
Known GenesBTNL2
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)esv3570971
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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