A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913493



Internal ID9677874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79320614..79321083hg38UCSC Ensembl
Outerchr18:77080614..77081083hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717630, esv2717497
Supporting Variants
SamplesSSM015
Known GenesATP9B
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)essv6913493
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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