A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569380



Internal ID18697578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37385897..37398095hg38UCSC Ensembl
Innerchr4:37387519..37399717hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3812199
hg1912199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1473e212
Supporting Variantsessv9770566, essv9770568, essv9770564, essv9770570, essv9770561, essv9770563, essv9770569, essv9770565, essv9770562
Samples401721CP, 401308LD, 401214BJ, 400977SC, 401825TH, 401326LI, 401493HC, 400474GF, 400601WC
Known GenesKIAA1239
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)esv3569380
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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