A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9805162



Internal ID18652707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35023858..35041470hg38UCSC Ensembl
Innerchr14:35493064..35510676hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3817613
hg1917613
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3581114
Supporting Variants
Samples400769SL
Known GenesSRP54
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
CommentsNumber of probes=20
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9805162
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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