A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1605e212



Internal ID22784532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52285479..52301198hg38UCSC Ensembl
chr5:51581313..51597032hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3815720
hg1915720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570140, esv3570139
Samples401474CE, 400075MR, 400927BD, 400599CP, 400701MM, 400424LN, 400984LD, 401221LD, 400987FB, 400569WC, 401052BM, 401146US, 401956DQ, 400230TB, 401403TD, 400949AM, 400595CP, 400834SS, 400897MD, 401468RL, 401556KR, 400493KH, 400241CP, 401019MP, 400627CC, 401297KC, 401263HS, 401687LR, 400773GS, 402038MR, 400650RM, 401038LN, 401133JG, 401609MB, 400738WM, 400838AM, 400660GK, 400381CA, 401968HL, 400043HC, 401563TK, 401813DN, 402054BD, 400888MS, 401087SF, 400211BJ, 400362TV, 400721DJ, 400378HL, 400795CL, 400818BL, 400654YW, 401203MP, 400158FB, 400881GS, 400376SJ, 400759FV, 401054VM, 401567BD, 401215MJ, 401728WK, 400108BJ, 401040KM, 401628GC, 401517PR, 400942HR, 400668TD, 401207DA, 400269DA
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)dgv1605e212
Frequency
Sample Size873
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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