A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671023



Internal ID9937128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67996543..68001608hg38UCSC Ensembl
chr16:68030446..68035511hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg385066
hg195066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6190497
SamplesHG00536
Known GenesDPEP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671023
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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