A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617246



Internal ID7004132
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13203251, essv13203250
SamplesHG04063, HG03046
Known GenesRGS20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617246
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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