A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13511369



Internal ID3513185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69416055..69439564hg38UCSC Ensembl
chr9:72030971..72054480hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3823510
hg1923510
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620559
Supporting Variants
SamplesHG02888
Known GenesAPBA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13511369
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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