A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646247



Internal ID7032992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60553021..60555558hg38UCSC Ensembl
Innerchr20:60553021..60555558hg38UCSC Ensembl
Outerchr20:60552655..60555926hg38UCSC Ensembl
chr20:59128079..59130616hg19UCSC Ensembl
Innerchr20:59128079..59130616hg19UCSC Ensembl
Outerchr20:59127713..59130984hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382538
hg192538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16219163, essv16219165, essv16219162, essv16219164, essv16219160, essv16219161, essv16219166
SamplesHG01944, NA18602, HG00458, NA18973, HG00560, NA18538, HG00513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646247
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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