A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16173468



Internal ID4823410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31562862..31564947hg38UCSC Ensembl
Innerchr20:31562862..31564947hg38UCSC Ensembl
Outerchr20:31562675..31565113hg38UCSC Ensembl
chr20:30150665..30152750hg19UCSC Ensembl
Innerchr20:30150665..30152750hg19UCSC Ensembl
Outerchr20:30150478..30152916hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382086
hg192086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645654
Supporting Variants
SamplesNA12043
Known GenesHM13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16173468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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