A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716848



Internal ID9951137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:21631508..21634068hg38UCSC Ensembl
Outerchr18:19211469..19214029hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382561
hg192561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761510
SamplesSSM061
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)esv2716848
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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