A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570247



Internal ID18351759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:88844912..88848274hg38UCSC Ensembl
Innerchr5:88140729..88144091hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383363
hg193363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9775489, essv9775486, essv9775485, essv9775487, essv9775483, essv9775484, essv9775482
Samples400238BB, 400526DR, 400688FL, 400246MG, 401636WR, 401117NA, 401997HB
Known GenesMEF2C
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)esv3570247
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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