A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13532948



Internal ID3534764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78303057..78325126hg38UCSC Ensembl
chr9:80917973..80940042hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3822070
hg1922070
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620794
Supporting Variants
SamplesHG00478
Known GenesPSAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13532948
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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