A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715162



Internal ID9949448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89454793..89455327hg38UCSC Ensembl
Outerchr16:89521201..89521735hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784224, essv6732762, essv6665676, essv6721301, essv6920853, essv6757153, essv6976273, essv6780058, essv6843089, essv6800894, essv6895196, essv6706755, essv6932538, essv6960308, essv6796672, essv6835466, essv6936843, essv6776288, essv6971479, essv6898072, essv6943862, essv6741574, essv6953900, essv6941004, essv6738302, essv6820377, essv6913222, essv6916714, essv6713548, essv6725104
SamplesSSM022, SSM082, SSM084, SSM099, SSM042, SSM040, SSM078, SSM025, SSM072, SSM020, SSM071, SSM016, SSM001, SSM045, SSM067, SSM050, SSM017, SSM066, SSM028, SSM029, SSM003, SSM047, SSM021, SSM052, SSM068, SSM044, SSM004, SSM015, SSM026, SSM098
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)esv2715162
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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