A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716765



Internal ID10300401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8934398..8935068hg38UCSC Ensembl
Outerchr18:8934396..8935066hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880032, essv6843257, essv6882862, essv6735655, essv6824390, essv6699246, essv6916851, essv6901181
SamplesSSM100, SSM079, SSM038, SSM093, SSM084, SSM094, SSM016, SSM049
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)esv2716765
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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