A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716944



Internal ID9951233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32130970..32131128hg38UCSC Ensembl
Outerchr18:29710933..29711091hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692263, essv6960616, essv6945473
SamplesSSM036, SSM003, SSM026
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)esv2716944
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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