A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717047



Internal ID10300683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47401228..47401630hg38UCSC Ensembl
Outerchr18:44927599..44928001hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38403
hg19403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717635, essv6954109, essv6888632
SamplesSSM096, SSM025, SSM043
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)esv2717047
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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