A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716593



Internal ID10300229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83026355..83027062hg38UCSC Ensembl
Outerchr17:80984231..80984938hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776424, essv6971631, essv6692235, essv6665950, essv6772841, essv6801039, essv6977306, essv6967022, essv6835596, essv6732905, essv6960557, essv6725245, essv6843241, essv6784372, essv6713670, essv6780216, essv6888591
SamplesSSM036, SSM027, SSM045, SSM065, SSM042, SSM028, SSM084, SSM047, SSM029, SSM096, SSM026, SSM067, SSM066, SSM068, SSM072, SSM082, SSM004
Known GenesB3GNTL1
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)esv2716593
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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