A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716867



Internal ID10300503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:24323325..24324686hg38UCSC Ensembl
Outerchr18:21903289..21904650hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381362
hg191362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916869, essv6852425, essv6779066, essv6801068, essv6913405, essv6840109, essv6780245, essv6692399, essv6945848, essv6725279, essv6756130, essv6863291, essv6835628, essv6898201, essv6846540, essv6788580, essv6761512, essv6688897, essv6913407, essv6945407, essv6732940, essv6812310, essv6901191, essv6772870
SamplesSSM100, SSM008, SSM045, SSM065, SSM009, SSM088, SSM002, SSM023, SSM058, SSM047, SSM069, SSM061, SSM035, SSM003, SSM067, SSM086, SSM085, SSM072, SSM082, SSM015, SSM016, SSM005, SSM010, SSM099
Known GenesOSBPL1A
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)esv2716867
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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