A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715103



Internal ID9949388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89121556..89122384hg38UCSC Ensembl
Outerchr16:89187964..89188792hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6674160, essv6966778, essv6665668, essv6725097, essv6780052, essv6741572, essv6867907, essv6688783, essv6960303
SamplesSSM027, SSM089, SSM031, SSM035, SSM045, SSM067, SSM029, SSM052, SSM026
Known GenesACSF3
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)esv2715103
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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