A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662518



Internal ID9581937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67788283..67791044hg38UCSC Ensembl
chr16:67822186..67824947hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg382762
hg192762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5811301, essv6232861, essv5714484, essv5558351, essv6166824, essv5807631, essv5426857, essv5851828
SamplesNA19321, NA19379, NA19701, NA19107, NA20344, NA18910, NA19235, NA19468
Known GenesRANBP10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662518
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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