A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716413



Internal ID10300049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80889805..80889976hg38UCSC Ensembl
Outerchr17:78863605..78863776hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863238, essv6966998, essv6674347, essv6868058, essv6832019, essv6882850, essv6852362, essv6858323, essv6960527
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM094, SSM031, SSM086, SSM081
Known GenesRPTOR
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)esv2716413
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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