A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13203251



Internal ID4565404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53955822..53960876hg38UCSC Ensembl
chr8:54868382..54873436hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg385055
hg195055
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617246
Supporting Variants
SamplesHG04063
Known GenesRGS20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13203251
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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