A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661314



Internal ID9927419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47971686..47973292hg38UCSC Ensembl
chr16:48005597..48007203hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381607
hg191607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5724815, essv5991939, essv6208506
SamplesHG00249, NA20795, HG00253
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661314
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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