A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717644



Internal ID9951935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79408376..79409482hg38UCSC Ensembl
Outerchr18:77168376..77169482hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863399, essv6835701, essv6666159, essv6967204, essv6820669, essv6758780, essv6735717, essv6946029, essv6674545, essv6921131, essv6769158, essv6960738, essv6868191, essv6766240, essv6804116, essv6909665
SamplesSSM059, SSM027, SSM064, SSM073, SSM088, SSM029, SSM026, SSM089, SSM017, SSM003, SSM031, SSM014, SSM082, SSM078, SSM049, SSM063
Known GenesNFATC1
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)esv2717644
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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