A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13351509



Internal ID1660626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139329298..139443103hg38UCSC Ensembl
chr8:140341542..140455346hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38113806
hg19113805
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619017
Supporting Variants
SamplesHG01524
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13351509
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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