A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569840



Internal ID18351352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:177438733..177445505hg38UCSC Ensembl
Innerchr4:178359887..178366659hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg386773
hg196773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9773283, essv9773296, essv9773281, essv9773291, essv9773276, essv9773284, essv9773305, essv9773292, essv9773300, essv9773280, essv9773275, essv9773297, essv9773287, essv9773279, essv9773303, essv9773290, essv9773293, essv9773295, essv9773302, essv9773306, essv9773285, essv9773289, essv9773278, essv9773304, essv9773298, essv9773286, essv9773301, essv9773294, essv9773282
Samples400075MR, 400619MP, 40031BA, 401074CM, 401117NA, 401841OB, 401820SD, 400641WJ, 400797ST, 401019MP, 402028BD, 401006ES, 400348DK, 400582WS, 401725MR, 401085LA, 401591BE, 401652HL, 400093BL, 401862AN, 400705KK, 402074RR, 400695PH, 400837HN, 400501SJ, 401786WD, 400811SK, 401628GC, 400923OA
Known GenesAGA
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)esv3569840
Frequency
Sample Size873
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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