A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717033



Internal ID10300669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46326613..46326960hg38UCSC Ensembl
Outerchr18:43906576..43906923hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954107, essv6858418, essv6703302, essv6804079, essv6801091
SamplesSSM087, SSM039, SSM073, SSM072, SSM025
Known Genes
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)esv2717033
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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