A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678976



Internal ID9598395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15576056..15580566hg38UCSC Ensembl
chr16:15669913..15674423hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg384511
hg194511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5831991, essv6006291
SamplesNA19010, NA18567
Known GenesC16orf45
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678976
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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