A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584376



Internal ID18365888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233913647..233926890hg38UCSC Ensembl
Innerchr2:234822292..234835535hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3813244
hg1913244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1220e212
Supporting Variantsessv9837097, essv9837101, essv9837100, essv9837105, essv9837106, essv9837104, essv9837103, essv9837102, essv9837098
Samples400059SV, 400493KH, 401977ES, 401864CV, 401391PJ, 401958MF, 401571SD, 400859SC, 401053MF
Known GenesTRPM8
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)esv3584376
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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