A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692468



Internal ID15067618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24727516..24729914hg38UCSC Ensembl
Innerchr20:24728516..24728914hg38UCSC Ensembl
Outerchr20:24726516..24730914hg38UCSC Ensembl
chr20:24708152..24710550hg19UCSC Ensembl
Innerchr20:24709152..24709550hg19UCSC Ensembl
Outerchr20:24707152..24711550hg19UCSC Ensembl
chr20:24656152..24658550hg18UCSC Ensembl
Innerchr20:24657152..24657550hg18UCSC Ensembl
Outerchr20:24655152..24659550hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386739
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692468
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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