A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9794651



Internal ID18297411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:91309817..91315548hg38UCSC Ensembl
Innerchr10:93069574..93075305hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg385732
hg195732
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3579071
Supporting Variants
Samples400520FM
Known GenesLOC100188947
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=14
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9794651
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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