A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16199491



Internal ID5692557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51100236..51110681hg38UCSC Ensembl
Innerchr20:51100236..51110681hg38UCSC Ensembl
Outerchr20:51099736..51111181hg38UCSC Ensembl
chr20:49716773..49727218hg19UCSC Ensembl
Innerchr20:49716773..49727218hg19UCSC Ensembl
Outerchr20:49716273..49727718hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3810446
hg1910446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646055
Supporting Variants
SamplesNA19086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16199491
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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