A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15439272



Internal ID4389814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27042159..27080488hg38UCSC Ensembl
chr16:27053480..27091809hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3838330
hg1938330
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638314
Supporting Variants
SamplesHG03911
Known GenesC16orf82
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15439272
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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