A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954109



Internal ID10058496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47401242..47401585hg38UCSC Ensembl
Outerchr18:44927613..44927956hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717047, esv2717043
Supporting Variants
SamplesSSM025
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)essv6954109
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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