A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16207746



Internal ID3226032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54861669..54872404hg38UCSC Ensembl
Innerchr20:54861697..54872376hg38UCSC Ensembl
Outerchr20:54861641..54872432hg38UCSC Ensembl
chr20:53478208..53488943hg19UCSC Ensembl
Innerchr20:53478236..53488915hg19UCSC Ensembl
Outerchr20:53478180..53488971hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810736
hg1910736
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646147
Supporting Variants
SamplesHG02837
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16207746
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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