A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15486785



Internal ID5488601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:58084081..58175175hg38UCSC Ensembl
chr16:58117985..58209079hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3891095
hg1991095
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638719
Supporting Variants
SamplesHG02299
Known GenesC16orf80, CSNK2A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15486785
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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