A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717525



Internal ID9951816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78430702..78431189hg38UCSC Ensembl
Outerchr18:76190702..76191189hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv474e201
Supporting Variantsessv6873109, essv6945963, essv6828546, essv6932786, essv6868180, essv6916922, essv6780314, essv6941260, essv6843337, essv6832115, essv6835683, essv6796923
SamplesSSM071, SSM011, SSM084, SSM089, SSM003, SSM067, SSM081, SSM082, SSM020, SSM016, SSM080, SSM022
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)esv2717525
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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