A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576380



Internal ID18704578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75724795..75746591hg38UCSC Ensembl
Innerchr7:75354113..75375909hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3821797
hg1921797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1925e212
Supporting Variantsessv9784179, essv9784189, essv9784182, essv9784186, essv9784187, essv9784183, essv9784184, essv9784181, essv9784173, essv9784175, essv9784180, essv9784176, essv9784172, essv9784174, essv9784170, essv9784171, essv9784178, essv9784185
Samples401706BJ, 400439IM, 400821FE, 400876OG, 401036WS, 400141CC, 400834SS, 401820SD, 401006ES, 401239PR, 401726LW, 401586RS, 401879HJ, 400639RP, 401861GG, 401152MV, 400982BS, 401482CB
Known GenesHIP1
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)esv3576380
Frequency
Sample Size873
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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