A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13149662



Internal ID1205547
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616701
Supporting Variants
SamplesHG01075
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13149662
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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