A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717566



Internal ID9951857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78651218..78651643hg38UCSC Ensembl
Outerchr18:76411218..76411643hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801144, essv6858507, essv6758777, essv6756189, essv6766238, essv6753171, essv6863393, essv6880094, essv6928650, essv6717674, essv6945985, essv6710205
SamplesSSM059, SSM087, SSM093, SSM088, SSM041, SSM057, SSM058, SSM019, SSM003, SSM072, SSM043, SSM063
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)esv2717566
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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