A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646123



Internal ID7032868
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16204959, essv16204960
SamplesHG03971, NA12874
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646123
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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