A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717667



Internal ID9951958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79622561..79623107hg38UCSC Ensembl
Outerchr18:77382561..77383107hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937116, essv6916935, essv6717684, essv6960742, essv6863402, essv6839476
SamplesSSM083, SSM088, SSM021, SSM026, SSM016, SSM043
Known Genes
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)esv2717667
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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