A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578022



Internal ID18706220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99756997..99780739hg38UCSC Ensembl
Innerchr1:100222553..100246295hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3823743
hg1923743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64e212
Supporting Variantsessv9777399, essv9777366, essv9777388, essv9777410, essv9777377, essv9777355
Samples401151RJ, 401646MC, 401950MD, 400869BK, 400837HN, 400013TA
Known GenesFRRS1
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)esv3578022
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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