A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717653



Internal ID9951944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79504835..79505818hg38UCSC Ensembl
Outerchr18:77264835..77265818hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38984
hg19984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710211, essv6909666
SamplesSSM041, SSM014
Known GenesNFATC1
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)esv2717653
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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