A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1616e212



Internal ID22784543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78501761..78503410hg38UCSC Ensembl
chr5:77797584..77799233hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381650
hg191650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570211, esv3570212
Samples401420PJ, 401162TM, 400880TM, 400618GC, 401196CR, 400821FE, 400634MP, 401275SJ, 401769CR, 400140WM, 401911FL, 401321CE, 400655WB, 401457WK, 401949MN, 401603HH, 401824MM, 400059SV, 401602PR, 401368WR, 401390DG, 400298ME, 401263HS, 401687LR, 400600DP, 400121PL, 400292LP, 401664SD, 401038LN, 401596PJ, 401855RE, 400733SW, 401013GJ, 400411TG, 401175FA, 401437MJ, 400207HN, 400496BL, 400994HJ, 400043HC, 400844GP, 400050RL, 401981GF, 400869BK, 401711WS, 400258BC, 401200BD, 400458LS, 401898DS, 401496SL, 400722OM, 400376SJ, 401277RA, 401288LD, 401010HT, 400328LM, 401166WJ, 402073LQ, 401912HD, 400291VJ, 401517PR, 401993HM
Known GenesLHFPL2
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)dgv1616e212
Frequency
Sample Size873
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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