A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616701



Internal ID7003587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:26476441..26484998hg38UCSC Ensembl
chr8:26333957..26342514hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg388558
hg198558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13149663, essv13149662
SamplesHG01075, HG01618
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616701
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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