A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv354e201



Internal ID22759712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46386889..46399941hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg1913053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742145, esv2741815, esv2743104, esv2742944, esv2714350, esv2741885, esv2742443, esv2742981, esv2742701, esv2743298, esv2741922, esv2742901, esv2740714, esv2742780, esv2742670, esv2743152, esv2742211, esv2740880, esv2740949, esv2741050, esv2741234, esv2741268, esv2741159, esv2742735, esv2741768, esv2740856, esv2741662, esv2742280, esv2741700, esv2743055, esv2742820, esv2742453, esv2741297
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM012
Known Genes
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)dgv354e201
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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