A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583856



Internal ID18712054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69801699..69806712hg38UCSC Ensembl
Innerchr2:70028831..70033844hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385014
hg195014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9827477, essv9827499, essv9827422, essv9827433, essv9827410, essv9827488, essv9827444, essv9827455, essv9827466, essv9827510, essv9827521
Samples400688FL, 400206SC, 401013GJ, 400838AM, 401879HJ, 401346FJ, 401262RR, 401981GF, 401391PJ, 400246MG, 401314MK
Known GenesANXA4
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)esv3583856
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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