A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717391



Internal ID9951681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76392229..76392798hg38UCSC Ensembl
Outerchr18:74104185..74104754hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668629, essv6772926, essv6916911, essv6816158, essv6863369, essv6682366
SamplesSSM065, SSM088, SSM033, SSM016, SSM077, SSM030
Known GenesZNF516
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)esv2717391
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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