A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658290



Internal ID9924395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47800616..47818219hg38UCSC Ensembl
chr16:47834527..47852130hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3817604
hg1917604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6172018, essv6305887
SamplesNA18628, HG00478
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658290
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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