A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9778385



Internal ID18281738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:28449711..28681348hg38UCSC Ensembl
Innerchr6:28417488..28649125hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38231638
hg19231638
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576110
Supporting Variants
Samples400091BS
Known GenesGPX5, GPX6, SCAND3
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
CommentsNumber of probes=186
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9778385
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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