A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15472389



Internal ID5474205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46727423..46897599hg38UCSC Ensembl
chr16:46761335..46931511hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38170177
hg19170177
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638541
Supporting Variants
SamplesHG01841
Known GenesC16orf87, GPT2, MYLK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15472389
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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