A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577970



Internal ID18706168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:76144439..76154477hg38UCSC Ensembl
Innerchr1:76610124..76620162hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3810039
hg1910039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9775399, essv9775410
Samples401366WD, 401358VP
Known GenesST6GALNAC3
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)esv3577970
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer