A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576402



Internal ID18704600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89897128..90256109hg38UCSC Ensembl
Innerchr7:89526442..89885423hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38358982
hg19358982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9784369
Samples401334DH
Known GenesC7orf63, DPY19L2P4, STEAP1, STEAP2
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3576402
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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