A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674059



Internal ID9940164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55417147..55417823hg38UCSC Ensembl
chr16:55451059..55451735hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5958499, essv5902034, essv5415965
SamplesNA07346, HG00284, HG00285
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674059
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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