A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15542309



Internal ID4559875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82134351..82201089hg38UCSC Ensembl
chr16:82167956..82234694hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3866739
hg1966739
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639354
Supporting Variants
SamplesHG04061
Known GenesMPHOSPH6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15542309
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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