A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717649



Internal ID9951940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79473226..79473723hg38UCSC Ensembl
Outerchr18:77233226..77233723hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832131, essv6888671, essv6792766, essv6905709, essv6812920, essv6877318, essv6902090, essv6843353, essv6779799, essv6780335, essv6692320, essv6967205, essv6816179
SamplesSSM036, SSM008, SSM027, SSM013, SSM009, SSM092, SSM084, SSM096, SSM067, SSM081, SSM077, SSM070, SSM012
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)esv2717649
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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