A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107593



Internal ID5204351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:378868..384473hg38UCSC Ensembl
Innerchr20:378868..384473hg38UCSC Ensembl
Outerchr20:378561..384831hg38UCSC Ensembl
chr20:359512..365117hg19UCSC Ensembl
Innerchr20:359512..365117hg19UCSC Ensembl
Outerchr20:359205..365475hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg385606
hg195606
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644950
Supporting Variants
SamplesNA18616
Known GenesTRIB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107593
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