A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13415353



Internal ID3417169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19379247..19517379hg38UCSC Ensembl
chr9:19379245..19517377hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38138133
hg19138133
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619911
Supporting Variants
SamplesHG03490
Known GenesACER2, RPS6, SLC24A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13415353
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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