A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9784597



Internal ID18680856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:108865878..109016477hg38UCSC Ensembl
Innerchr7:108506322..108656534hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38150600
hg19150213
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576413
Supporting Variants
Samples401608GE
Known GenesC7orf66
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=92
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9784597
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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