A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16154863



Internal ID6156679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18475870..18486400hg38UCSC Ensembl
Innerchr20:18475870..18486400hg38UCSC Ensembl
Outerchr20:18475370..18486900hg38UCSC Ensembl
chr20:18456514..18467044hg19UCSC Ensembl
Innerchr20:18456514..18467044hg19UCSC Ensembl
Outerchr20:18456014..18467544hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3810531
hg1910531
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645439
Supporting Variants
SamplesNA20587
Known GenesPOLR3F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16154863
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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