A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570137



Internal ID18698335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51315375..51327699hg38UCSC Ensembl
Innerchr5:50611209..50623533hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3812325
hg1912325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1604e212
Supporting Variantsessv9774698, essv9774699
Samples400927BD, 400641WJ
Known Genes
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)esv3570137
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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