A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666209



Internal ID9932314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:70095639..70101285hg38UCSC Ensembl
Outerchr17:70095602..70101335hg38UCSC Ensembl
Innerchr17:68091780..68097426hg19UCSC Ensembl
Outerchr17:68091743..68097476hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg385734
hg195734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6366694
SamplesNA12282
Known GenesKCNJ16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666209
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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