A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16182080



Internal ID6183918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38858020..38867590hg38UCSC Ensembl
Innerchr20:38858020..38867590hg38UCSC Ensembl
Outerchr20:38857903..38867734hg38UCSC Ensembl
chr20:37486663..37496233hg19UCSC Ensembl
Innerchr20:37486663..37496233hg19UCSC Ensembl
Outerchr20:37486546..37496377hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg389571
hg199571
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645791
Supporting Variants
SamplesHG02131
Known GenesPPP1R16B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16182080
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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