A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576482



Internal ID18357994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152058842..152259368hg38UCSC Ensembl
Innerchr7:151755927..151956453hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38200527
hg19200527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9785970
Samples400695PH
Known GenesGALNT11, KMT2C
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)esv3576482
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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