A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13511478



Internal ID3513294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69482682..69512490hg38UCSC Ensembl
chr9:72097598..72127406hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3829809
hg1929809
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620562
Supporting Variants
SamplesHG02019
Known GenesAPBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13511478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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