A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717546



Internal ID9951837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78504539..78505042hg38UCSC Ensembl
Outerchr18:76264539..76265042hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895406, essv6835689
SamplesSSM082, SSM098
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)esv2717546
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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