A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674718



Internal ID9594137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22179637..22187921hg38UCSC Ensembl
chr16:22190958..22199242hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg388285
hg198285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6470590, essv5555402
SamplesNA19675, NA19679
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674718
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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