A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716942



Internal ID9951231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32130413..32131298hg38UCSC Ensembl
Outerchr18:29710376..29711261hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921063, essv6682333, essv6828478, essv6852437, essv6674418, essv6909591, essv6741721, essv6949931, essv6692263, essv6960616, essv6945473, essv6932728, essv6666024, essv6788588, essv6902025
SamplesSSM086, SSM036, SSM033, SSM031, SSM020, SSM024, SSM012, SSM017, SSM029, SSM003, SSM069, SSM052, SSM026, SSM014, SSM080
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)esv2716942
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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