A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575632



Internal ID18703830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173522063..173572045hg38UCSC Ensembl
Innerchr3:173239853..173289835hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3849983
hg1949983
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1429e212
Supporting Variantsessv9768941, essv9768940, essv9768933, essv9768939, essv9768937, essv9768936, essv9768935, essv9768938
Samples401459HF, 400063BR, 401966SR, 400134WK, 401230NL, 400960TN, 400235MP, 401969DR
Known GenesNLGN1
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)esv3575632
Frequency
Sample Size873
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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