A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583007



Internal ID18364519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36039805..36053307hg38UCSC Ensembl
Innerchr18:33619768..33633270hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3813503
hg1913503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv978e212
Supporting Variantsessv9815563, essv9815571, essv9815575, essv9815576, essv9815570, essv9815557, essv9815569, essv9815577, essv9815559, essv9815562, essv9815560, essv9815572, essv9815558, essv9815573, essv9815565, essv9815574, essv9815566, essv9815564, essv9815568, essv9815561
Samples401261HD, 401498HH, 400655WB, 400453LN, 401551MB, 401214BJ, 401566DD, 402029KJ, 400060MC, 401834CB, 400248JO, 402074RR, 401307VR, 401874DJ, 401552BK, 400173KP, 401554VN, 401932GN, 401111LH, 400982BS
Known GenesRPRD1A
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)esv3583007
Frequency
Sample Size873
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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