A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621450



Internal ID7008319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109964850..110018993hg38UCSC Ensembl
chr9:112727130..112781273hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3854144
hg1954144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13596649
SamplesNA19380
Known GenesPALM2-AKAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621450
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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