A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577808



Internal ID18706006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36394322..36438579hg38UCSC Ensembl
Innerchr1:36859923..36904180hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3844258
hg1944258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9834933, essv9834921
Samples401514BA, 400084DM
Known GenesLSM10, OSCP1
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)esv3577808
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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