A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715147



Internal ID9949433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89341555..89342332hg38UCSC Ensembl
Outerchr16:89407963..89408740hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv384e201
Supporting Variantsessv6703087, essv6901875, essv6725102, essv6867908, essv6877134, essv6696203, essv6772695, essv6936840, essv6780054, essv6920848, essv6913220, essv6682162, essv6796670, essv6852157, essv6898071, essv6777443, essv6776287, essv6763752, essv6732760, essv6871183, essv6758622
SamplesSSM059, SSM008, SSM071, SSM045, SSM065, SSM039, SSM092, SSM090, SSM021, SSM047, SSM062, SSM089, SSM017, SSM067, SSM086, SSM033, SSM066, SSM015, SSM037, SSM099, SSM012
Known GenesANKRD11
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)esv2715147
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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