A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9784315



Internal ID18324711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88517004..89889630hg38UCSC Ensembl
Innerchr7:88146319..89518944hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381372627
hg191372626
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576400
Supporting Variants
Samples401334DH
Known GenesC7orf62, ZNF804B
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=1228
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9784315
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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