A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581386



Internal ID18709584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90669489..90675274hg38UCSC Ensembl
Innerchr14:91135833..91141618hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg385786
hg195786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807142
Samples401149VA
Known GenesTTC7B
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)esv3581386
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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