A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828478



Internal ID9882427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32130887..32131191hg38UCSC Ensembl
Outerchr18:29710850..29711154hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716943, esv2716942
Supporting Variants
SamplesSSM080
Known GenesRNF138
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)essv6828478
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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