A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5662129



Internal ID8770286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:67053330..67054790hg38UCSC Ensembl
Outerchr16:67053293..67054840hg38UCSC Ensembl
Innerchr16:67087233..67088693hg19UCSC Ensembl
Outerchr16:67087196..67088743hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677554
Supporting Variants
SamplesHG00171
Known GenesCBFB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5662129
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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