A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577721



Internal ID18359233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9044393..9059929hg38UCSC Ensembl
Innerchr1:9104452..9119988hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3815537
hg1915537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9792755, essv9792866, essv9793088, essv9792977, essv9792533, essv9792644
Samples401146US, 401856GC, 401093VL, 400413FJ, 401591BE, 401513KC
Known GenesSLC2A5
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)esv3577721
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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