A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571929



Internal ID18700127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:77084260..77126889hg38UCSC Ensembl
Innerchr7:76713577..76756206hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3842630
hg1942630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1928e212
Supporting Variantsessv9784220, essv9784226, essv9784224, essv9784223, essv9784221, essv9784225
Samples401402EN, 400453LN, 401869BG, 400427SD, 400385LJ, 401200BD
Known GenesCCDC146
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)esv3571929
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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