A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv385e201



Internal ID20125272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89579751..89580280hg38UCSC Ensembl
chr16:89646159..89646688hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715175, esv2715172
SamplesSSM065, SSM022, SSM013, SSM082, SSM091, SSM040, SSM078, SSM043, SSM064, SSM035, SSM072, SSM020, SSM071, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM097, SSM041, SSM077, SSM100, SSM085, SSM017, SSM011, SSM029, SSM047, SSM069, SSM087, SSM046, SSM096, SSM023, SSM068, SSM044, SSM074, SSM004, SSM014, SSM098, SSM070
Known GenesCPNE7
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)dgv385e201
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer