A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852437



Internal ID9903989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32130860..32131240hg38UCSC Ensembl
Outerchr18:29710823..29711203hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716943, esv2716942
Supporting Variants
SamplesSSM086
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)essv6852437
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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