A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715175



Internal ID9949461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89579803..89580253hg38UCSC Ensembl
Outerchr16:89646211..89646661hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv385e201
Supporting Variantsessv6846418, essv6784225, essv6806828, essv6888495, essv6895197, essv6901078, essv6949734, essv6800896, essv6725105, essv6788406, essv6891780, essv6792501, essv6932541, essv6916716, essv6920854, essv6882779, essv6820378, essv6871331, essv6768966, essv6909461
SamplesSSM100, SSM024, SSM045, SSM011, SSM064, SSM097, SSM074, SSM069, SSM096, SSM017, SSM094, SSM014, SSM085, SSM068, SSM072, SSM020, SSM078, SSM016, SSM070, 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)esv2715175
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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