A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196157



Internal ID6197973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45310422..45318758hg38UCSC Ensembl
chr20:43939062..43947398hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg388337
hg198337
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645928
Supporting Variants
SamplesHG03808
Known GenesRBPJL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196157
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer