A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571124



Internal ID18699322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:64327116..64333668hg38UCSC Ensembl
Innerchr6:65037009..65043561hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg386553
hg196553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1786e212
Supporting Variantsessv9779690, essv9779691, essv9779688, essv9779687, essv9779692
Samples400626FC, 400893ZE, 400977SC, 401369GR, 401268PS
Known GenesEYS
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)esv3571124
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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