A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584335



Internal ID18712533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:213172979..213185883hg38UCSC Ensembl
Innerchr2:214037703..214050607hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3812905
hg1912905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1210e212
Supporting Variantsessv9836885, essv9836884, essv9836886
Samples401603HH, 401566DD, 401011PJ
Known Genes
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)esv3584335
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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