A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618978



Internal ID4726583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125393571..125397683hg38UCSC Ensembl
chr9:128155850..128159962hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384113
hg194113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621746
Supporting Variants
SamplesNA06986
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618978
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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