A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15404959



Internal ID4525662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20533815..20542681hg38UCSC Ensembl
chr16:20545137..20554003hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388867
hg198867
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638146
Supporting Variants
SamplesHG04022
Known GenesACSM2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15404959
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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