A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575630



Internal ID18703828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:173522063..173582390hg38UCSC Ensembl
Innerchr3:173239853..173300180hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3860328
hg1960328
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1429e212
Supporting Variantsessv9768959, essv9768948, essv9768955, essv9768953, essv9768952, essv9768949, essv9768950, essv9768954, essv9768951, essv9768946, essv9768947, essv9768957, essv9768958, essv9768944
Samples401212HJ, 401146US, 400455SJ, 401672FD, 400427SD, 400825TW, 400040CN, 401494PD, 400082SD, 400265LK, 401771OS, 400581VJ, 400300SD, 400801HS
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)esv3575630
Frequency
Sample Size873
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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