A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1591e212



Internal ID20150047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32102612..32171513hg38UCSC Ensembl
chr5:32102718..32171619hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3868902
hg1968902
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575834, esv3575829, esv3575832, esv3575826, esv3575827, esv3575830, esv3575831
Samples400520FM, 401125LM, 401958MF, 400261RN, 400987FB, 400441GS, 401355CD, 400203NA, 400849SH, 401057SS, 401091HS, 401594MP, 400598DA, 400145BL, 401315HK, 400114GR, 400739SS, 401265CB, 400818BL, 401717LP, 400148MS, 401700BN, 400825TW, 400982BS, 401956DQ, 401135CS, 401576WC, 401185LE, 400430KV, 400486LS, 400660GK, 400265LK, 401302LJ
Known GenesGOLPH3, PDZD2
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)dgv1591e212
Frequency
Sample Size873
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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