A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662247



Internal ID9928352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52570593..52571821hg38UCSC Ensembl
chr16:52604505..52605733hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6205772, essv6122360
SamplesNA19198, NA19835
Known GenesCASC16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662247
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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