A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868193



Internal ID9918169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78170283..79635788hg38UCSC Ensembl
Outerchr18:75930283..77395788hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381465506
hg191465506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717497
Supporting Variants
SamplesSSM089
Known GenesATP9B, NFATC1, SALL3
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)essv6868193
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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