A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570768



Internal ID18698966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10466868..10530758hg38UCSC Ensembl
Innerchr6:10467101..10530991hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3863891
hg1963891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9778128, essv9778127, essv9778129
Samples400294HD, 400588BE, 401494PD
Known GenesGCNT2
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)esv3570768
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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