A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575913



Internal ID18704111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177739126..177827951hg38UCSC Ensembl
Innerchr5:177166127..177254952hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3888826
hg1988826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1672e212
Supporting Variantsessv9776888, essv9776886, essv9776887
Samples400094RS, 401863BD, 401879HJ
Known GenesFAM153A
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)esv3575913
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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