A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570392



Internal ID18698590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123794870..123814055hg38UCSC Ensembl
Innerchr5:123130564..123149749hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3819186
hg1919186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1643e212
Supporting Variantsessv9775993, essv9776002, essv9775996, essv9776006, essv9775990, essv9775984, essv9775995, essv9776001, essv9775981, essv9776010, essv9776009, essv9775985, essv9776005, essv9776008, essv9776012, essv9775983, essv9775997, essv9775999, essv9775998, essv9775992, essv9776007, essv9776003, essv9775987, essv9776004, essv9775994, essv9775982, essv9776013, essv9775991, essv9775988, essv9775986
Samples400701MM, 401400NP, 400554WB, 400594VJ, 400852WJ, 400425SL, 401582GG, 400669LD, 400773GS, 401406KF, 401732HW, 400285FA, 401185LE, 400758KP, 401513KC, 401729AC, 400603CJ, 401580CA, 400818BL, 400654YW, 400601WC, 401277RA, 400128MJ, 400719TM, 402073LQ, 401912HD, 401728WK, 401628GC, 400661AD, 400540BM
Known Genes
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)esv3570392
Frequency
Sample Size873
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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