A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581398



Internal ID18709596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:95877523..95882532hg38UCSC Ensembl
Innerchr14:96343860..96348869hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385010
hg195010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9807164, essv9807162, essv9807173, essv9807167, essv9807165, essv9807170, essv9807163, essv9807159, essv9807171, essv9807161, essv9807172, essv9807169, essv9807160, essv9807168
Samples401191MI, 400701MM, 400114GR, 400595CP, 400225CJ, 401936BA, 402019MC, 400675HC, 400343BD, 401038LN, 400242TP, 402051AF, 400778SR, 401932GN
Known GenesLINC00617
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)esv3581398
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer