A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717065



Internal ID10300701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48730070..48730478hg38UCSC Ensembl
Outerchr18:46256441..46256849hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696428, essv6717637, essv6824426
SamplesSSM079, SSM037, SSM043
Known GenesCTIF
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)esv2717065
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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