A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576117



Internal ID18704315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29869381..29906852hg38UCSC Ensembl
Innerchr6:29837158..29874629hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3837472
hg1937472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1727e212
Supporting Variantsessv9778455, essv9778454
Samples400626FC, 400430KV
Known GenesHLA-H
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)esv3576117
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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