A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584246



Internal ID18712444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190461225..190469348hg38UCSC Ensembl
Innerchr2:191325951..191334074hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg388124
hg198124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1198e212
Supporting Variantsessv9836217, essv9836218, essv9836230, essv9836228, essv9836235, essv9836224, essv9836219, essv9836226, essv9836211, essv9836233, essv9836231, essv9836225, essv9836212, essv9836229, essv9836223, essv9836220, essv9836214, essv9836215, essv9836234, essv9836227, essv9836213, essv9836216, essv9836222
Samples400554WB, 400917CG, 400140WM, 400553PP, 401500OM, 400379BB, 401766MR, 400353ML, 401732HW, 400515ZG, 401437MJ, 401423BA, 401318AV, 400361HC, 401729AC, 400387HE, 401981GF, 400329HJ, 401135CS, 401797LS, 400291VJ, 401576WC, 400942HR
Known GenesMFSD6
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)esv3584246
Frequency
Sample Size873
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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