A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717526



Internal ID9951817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78430734..78431526hg38UCSC Ensembl
Outerchr18:76190734..76191526hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv473e201
Supporting Variantsessv6873109, essv6928645, essv6945963, essv6828546, essv6710196, essv6688948, essv6692306, essv6780314, essv6941260, essv6682380, essv6788645, essv6792747, essv6729126, essv6674520, essv6820659, essv6801138, essv6852539, essv6835683, essv6796923, essv6744594
SamplesSSM036, SSM071, SSM046, SSM011, SSM041, SSM069, SSM019, SSM035, SSM003, SSM031, SSM067, SSM086, SSM033, SSM072, SSM082, SSM078, SSM053, SSM080, SSM022, SSM070
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)esv2717526
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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