A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673940



Internal ID9940045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68315921..68319390hg38UCSC Ensembl
Outerchr17:68315884..68319440hg38UCSC Ensembl
Innerchr17:66312062..66315531hg19UCSC Ensembl
Outerchr17:66312025..66315581hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383557
hg193557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5408900
SamplesNA19078
Known GenesARSG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673940
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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