A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15474735



Internal ID5476551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49296667..49300549hg38UCSC Ensembl
Innerchr16:49296667..49300549hg38UCSC Ensembl
Outerchr16:49296366..49300839hg38UCSC Ensembl
chr16:49330578..49334460hg19UCSC Ensembl
Innerchr16:49330578..49334460hg19UCSC Ensembl
Outerchr16:49330277..49334750hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383883
hg193883
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638592
Supporting Variants
SamplesHG01797
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15474735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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