A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13351507



Internal ID1660622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139308425..139448257hg38UCSC Ensembl
chr8:140320669..140460500hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38139833
hg19139832
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619016
Supporting Variants
SamplesHG01524
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13351507
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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