A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716648



Internal ID10300284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:626800..627178hg38UCSC Ensembl
Outerchr18:626800..627178hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863263, essv6898181, essv6665959, essv6721433, essv6932698, essv6741683
SamplesSSM088, SSM029, SSM044, SSM020, SSM099, SSM052
Known GenesCLUL1
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)esv2716648
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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