A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16204959



Internal ID4467773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53707286..53712756hg38UCSC Ensembl
chr20:52323825..52329295hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385471
hg195471
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646123
Supporting Variants
SamplesHG03971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16204959
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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