A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569169



Internal ID18350681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187371509..187390126hg38UCSC Ensembl
Innerchr3:187089297..187107914hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3818618
hg1918618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9769193, essv9769192
Samples400287BP, 401706BJ
Known GenesRTP4
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)esv3569169
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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