A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363817



Internal ID5365633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4823818..4874308hg38UCSC Ensembl
chr16:4873819..4924309hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3850491
hg1950491
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637707
Supporting Variants
SamplesHG01954
Known GenesGLYR1, UBN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363817
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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