A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578389



Internal ID18359901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206548588..206561171hg38UCSC Ensembl
Innerchr1:206721916..206734499hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3812584
hg1912584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv138e212
Supporting Variantsessv9804388, essv9804355, essv9804333, essv9804299, essv9804322, essv9804377, essv9804366, essv9804311, essv9804344
Samples400855BD, 401831TW, 400579HJ, 401618HR, 400886MP, 400258BC, 401287CF, 400079AP, 400782IE
Known GenesRASSF5
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)esv3578389
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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