A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676947



Internal ID9943052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:70106701..70108294hg38UCSC Ensembl
chr17:68102842..68104435hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg381594
hg191594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv563e199
Supporting Variantsessv5563559, essv6165119, essv5878836, essv6295072
SamplesNA19058, NA18592, NA18599, NA18612
Known GenesKCNJ16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676947
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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