A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646006



Internal ID6686066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48936606..48939529hg38UCSC Ensembl
Innerchr20:48936613..48939522hg38UCSC Ensembl
Outerchr20:48936599..48939536hg38UCSC Ensembl
chr20:47553143..47556066hg19UCSC Ensembl
Innerchr20:47553150..47556059hg19UCSC Ensembl
Outerchr20:47553136..47556073hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg382924
hg192924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198841
SamplesHG01939
Known GenesARFGEF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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