A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676266



Internal ID9595685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57469310..57469911hg38UCSC Ensembl
Outerchr16:57469273..57469961hg38UCSC Ensembl
Innerchr16:57503222..57503823hg19UCSC Ensembl
Outerchr16:57503185..57503873hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5645984, essv6109688
SamplesNA19319, NA18522
Known GenesPOLR2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676266
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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