A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196814



Internal ID6198630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46616790..46645827hg38UCSC Ensembl
chr20:45245429..45274466hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3829038
hg1929038
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645956
Supporting Variants
SamplesNA18547
Known GenesSLC13A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196814
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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