A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9791996



Internal ID18635029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:6631645..6798994hg38UCSC Ensembl
Innerchr10:6673607..6840956hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38167350
hg19167350
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576050
Supporting Variants
Samples400265LK
Known GenesLINC00706, LINC00707
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=144
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9791996
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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