A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916933



Internal ID9678067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79525106..79525477hg38UCSC Ensembl
Outerchr18:77285106..77285477hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717654, esv2717497
Supporting Variants
SamplesSSM016
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)essv6916933
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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