A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717648



Internal ID9951939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79455698..79455864hg38UCSC Ensembl
Outerchr18:77215698..77215864hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717682, essv6960739, essv6852560
SamplesSSM086, SSM043, SSM026
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)esv2717648
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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