A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9781336



Internal ID18294612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:109428085..109446498hg38UCSC Ensembl
Innerchr6:109749288..109767701hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3818414
hg1918414
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576210
Supporting Variants
Samples400439IM
Known GenesMICAL1, PPIL6, SMPD2
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
CommentsNumber of probes=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9781336
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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