A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576239



Internal ID18704437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:160611702..160626334hg38UCSC Ensembl
Innerchr6:161032734..161047366hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3814633
hg1914633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9782441, essv9782444, essv9782440, essv9782443, essv9782439, essv9782442, essv9782446, essv9782438
Samples401385BB, 401742KB, 400553PP, 402056KD, 400186WC, 401726LW, 400615RI, 401100SJ
Known GenesLPA
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)esv3576239
Frequency
Sample Size873
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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