A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716530



Internal ID10300166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82764764..82764923hg38UCSC Ensembl
Outerchr17:80722640..80722799hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv437e201
Supporting Variantsessv6721417, essv6863248, essv6692228, essv6858343, essv6909557, essv6780209, essv6703233, essv6674359, essv6895316, essv6796813, essv6824364, essv6828436, essv6868067, essv6901169, essv6967013, essv6725240
SamplesSSM100, SSM036, SSM071, SSM027, SSM045, SSM079, SSM087, SSM039, SSM088, SSM089, SSM031, SSM067, SSM044, SSM014, SSM080, SSM098
Known GenesTBCD
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)esv2716530
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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