A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv375e201



Internal ID22759733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81866366..81866651hg38UCSC Ensembl
chr16:81899971..81900256hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2714794, esv2740936
SamplesSSM036, SSM027, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM013, SSM073, SSM088, SSM041, SSM023, SSM028, SSM047, SSM018, SSM069, SSM096, SSM026, SSM089, SSM017, SSM019, SSM032, SSM031, SSM044, SSM086, SSM068, SSM081, SSM040, SSM072, SSM005, SSM080, SSM076, SSM022, SSM091, SSM070, SSM004, SSM043, SSM098, SSM049, SSM056, SSM012
Known GenesPLCG2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv375e201
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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