A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5465149



Internal ID9870180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80909673..80913695hg38UCSC Ensembl
Outerchr17:80909636..80913745hg38UCSC Ensembl
Innerchr17:78883473..78887495hg19UCSC Ensembl
Outerchr17:78883436..78887545hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384110
hg194110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663988
Supporting Variants
SamplesNA20542
Known GenesRPTOR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5465149
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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