A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717689



Internal ID9951980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79742177..79742273hg38UCSC Ensembl
Outerchr18:77502177..77502273hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967212
SamplesSSM027
Known GenesCTDP1
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)esv2717689
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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