A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580812



Internal ID18709010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92015933..92037389hg38UCSC Ensembl
Innerchr13:92668186..92689642hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3821457
hg1921457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv568e212
Supporting Variantsessv9804038, essv9804037, essv9804053, essv9804049, essv9804027, essv9804052, essv9804029, essv9804034, essv9804051, essv9804045, essv9804047, essv9804054, essv9804028, essv9804042, essv9804031, essv9804035, essv9804025, essv9804039, essv9804046, essv9804043, essv9804030, essv9804048, essv9804023, essv9804026, essv9804032, essv9804041, essv9804050, essv9804040, essv9804024, essv9804036
Samples400424LN, 400534ME, 400739SS, 400626FC, 400523GB, 400438DB, 400503HD, 400460DM, 400650RM, 401994BD, 401873BK, 401448BJ, 400763BT, 401726LW, 400615RI, 400381CA, 400082SD, 400994HJ, 401506LK, 400050RL, 401444LD, 401200BD, 401112LG, 400722OM, 400246MG, 400069CN, 401894PD, 401932GN, 401066MM, 401395OP
Known GenesGPC5
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)esv3580812
Frequency
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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