A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3578208



Internal ID18359720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158167664..158183736hg38UCSC Ensembl
Innerchr1:158137454..158153526hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3816073
hg1916073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9793478, essv9793500, essv9793489, essv9793467
Samples400512LR, 401326LI, 400837HN, 401932GN
Known GenesCD1D
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)esv3578208
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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