A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674597



Internal ID9594016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49296675..49300541hg38UCSC Ensembl
chr16:49330586..49334452hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383867
hg193867
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5577885, essv5676438, essv5706918
SamplesHG00443, HG00619, HG00692
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674597
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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