A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584394



Internal ID18712592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241073909..241077461hg38UCSC Ensembl
Innerchr2:242013324..242016876hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383553
hg193553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1222e212
Supporting Variantsessv9837138, essv9837141, essv9837144, essv9837134, essv9837145, essv9837146, essv9837136, essv9837142, essv9837148, essv9837140, essv9837147, essv9837137, essv9837135, essv9837139, essv9837133
Samples400068PW, 400545EW, 402012RR, 400871CM, 401104DM, 401831TW, 401997HB, 401791FG, 401764JJ, 400124FR, 400361HC, 401795SP, 401844ZD, 400238BB, 400091BS
Known GenesSNED1
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)esv3584394
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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