A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569123



Internal ID18697321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:174874835..174882181hg38UCSC Ensembl
Innerchr3:174592625..174599971hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg387347
hg197347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9768968, essv9768972, essv9768974, essv9768970, essv9768969, essv9768965, essv9768971, essv9768975, essv9768973, essv9768966, essv9768976
Samples400287BP, 400572PJ, 400970VE, 401721CP, 401975VD, 400302HW, 401499JR, 400854SG, 401587RC, 401200BD, 401105WS
Known GenesNAALADL2
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)esv3569123
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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