A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717687



Internal ID9951978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79741762..79742364hg38UCSC Ensembl
Outerchr18:77501762..77502364hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6932805, essv6784475, essv6696493, essv6703374, essv6674552, essv6925179, essv6971753, essv6801157, essv6960746, essv6967212, essv6733011, essv6843357
SamplesSSM027, SSM084, SSM031, SSM072, SSM020, SSM039, SSM028, SSM047, SSM037, SSM068, SSM026, SSM018
Known GenesCTDP1
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)esv2717687
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer