A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677533



Internal ID9943638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47830900..47839516hg38UCSC Ensembl
chr16:47864811..47873427hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg388617
hg198617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5430855, essv6324515
SamplesNA18628, HG00478
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677533
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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