A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577880



Internal ID18359392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58571980..58585322hg38UCSC Ensembl
Innerchr1:59037652..59050994hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3813343
hg1913343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e212
Supporting Variantsessv9767212, essv9767223, essv9767234, essv9767201, essv9767245
Samples400325BE, 400298ME, 401493HC, 401552BK, 400863SS
Known GenesTACSTD2
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)esv3577880
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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