A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715172



Internal ID9949458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89579751..89580280hg38UCSC Ensembl
Outerchr16:89646159..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 Variantsdgv385e201
Supporting Variantsessv6835467, essv6976284, essv6846418, essv6784225, essv6905486, essv6806828, essv6888495, essv6815979, essv6710002, essv6895197, essv6901078, essv6941007, essv6949734, essv6717414, essv6800896, essv6725105, essv6796673, essv6688786, essv6874105, essv6788406, essv6706756, essv6721302, essv6891780, essv6792501, essv6945644, essv6932541, essv6916716, essv6772698, essv6780059, essv6728895, essv6858145, essv6920854, essv6858144, essv6665678, essv6882779, essv6820378, essv6732763, essv6678444, essv6871331, essv6768966, essv6909461
SamplesSSM100, SSM071, SSM024, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM097, SSM013, SSM074, SSM041, SSM023, SSM047, SSM069, SSM029, SSM096, SSM017, SSM035, SSM094, SSM032, SSM067, SSM044, SSM014, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM078, SSM016, SSM077, SSM022, SSM091, SSM070, SSM004, SSM043, SSM098
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)esv2715172
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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