A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621448



Internal ID6661627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109954078..110129324hg38UCSC Ensembl
chr9:112716358..112891604hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38175247
hg19175247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13596644
SamplesNA19380
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621448
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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