A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717647



Internal ID9951938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79455575..79455948hg38UCSC Ensembl
Outerchr18:77215575..77215948hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792764, essv6717682, essv6960739, essv6852560
SamplesSSM086, SSM043, SSM026, 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)esv2717647
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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