A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9782555



Internal ID18279734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162324713..162469169hg38UCSC Ensembl
Innerchr6:162745745..162890201hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38144457
hg19144457
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3571513
Supporting Variants
Samples400047DS
Known GenesPARK2
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=167
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9782555
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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