A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576318



Internal ID18357830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38253062..38347190hg38UCSC Ensembl
Innerchr7:38292663..38386791hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3894129
hg1994129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1888e212
Supporting Variantsessv9783335, essv9783333
Samples401234MB, 401612HB
Known GenesTARP, TRG-AS1
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)esv3576318
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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