A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717652



Internal ID9951943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79473412..79473745hg38UCSC Ensembl
Outerchr18:77233412..77233745hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843353, essv6901258, essv6832131, essv6780335, essv6877318, essv6846583, essv6816179, essv6792766, essv6967205, essv6888671, essv6905709, essv6692320
SamplesSSM027, SSM092, SSM013, SSM036, SSM084, SSM067, SSM077, SSM100, SSM085, SSM096, SSM081, SSM070
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)esv2717652
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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