A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717654



Internal ID9951945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79525093..79525477hg38UCSC Ensembl
Outerchr18:77285093..77285477hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753182, essv6916933, essv6905710, essv6771264, essv6729145
SamplesSSM013, SSM016, SSM057, SSM001, SSM046
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)esv2717654
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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