A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13129910



Internal ID3131726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18121821..18287748hg38UCSC Ensembl
chr8:17979330..18145257hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38165928
hg19165928
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616514
Supporting Variants
SamplesHG03740
Known GenesNAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13129910
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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