A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv568e212



Internal ID22783495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92015933..92037740hg38UCSC Ensembl
chr13:92668186..92689993hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3821808
hg1921808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580814, esv3580812
Samples400424LN, 400534ME, 400739SS, 400626FC, 400523GB, 400438DB, 400503HD, 400460DM, 400650RM, 401994BD, 401873BK, 401448BJ, 400763BT, 401726LW, 400615RI, 400381CA, 400082SD, 400994HJ, 401506LK, 400050RL, 401444LD, 401200BD, 401112LG, 400458LS, 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)dgv568e212
Frequency
Sample Size873
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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