A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646012



Internal ID6686071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49175178..49180614hg38UCSC Ensembl
Innerchr20:49175200..49180593hg38UCSC Ensembl
Outerchr20:49175157..49180636hg38UCSC Ensembl
chr20:47791715..47797151hg19UCSC Ensembl
Innerchr20:47791737..47797130hg19UCSC Ensembl
Outerchr20:47791694..47797173hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg385437
hg195437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198882
SamplesHG01606
Known GenesSTAU1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646012
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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