A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3569785



Internal ID18697983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:163737128..163758522hg38UCSC Ensembl
Innerchr4:164658280..164679674hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3821395
hg1921395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1540e212
Supporting Variantsessv9772868, essv9772870, essv9772875, essv9772873, essv9772871, essv9772874, essv9772869, essv9772876, essv9772872
Samples401021SC, 401162TM, 400427SD, 400002HK, 400354TJ, 400999HR, 400695PH, 401881TJ, 400930MK
Known GenesMARCH1
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)esv3569785
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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