A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577449



Internal ID18358961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:76498311..76500814hg38UCSC Ensembl
Innerchr10:78258069..78260572hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg382504
hg192504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9794330, essv9794329, essv9794331
Samples401819BS, 401125LM, 401729AC
Known GenesC10orf11
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)esv3577449
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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