A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13598989



Internal ID4064880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110412887..110423226hg38UCSC Ensembl
chr9:113175167..113185506hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3810340
hg1910340
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621464
Supporting Variants
SamplesHG03698
Known GenesSVEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13598989
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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