A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598622



Internal ID6638887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170230433..170240838hg38UCSC Ensembl
chr3:169948221..169958626hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3810406
hg1910406
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11223151, essv11223155, essv11223149, essv11223154, essv11223150, essv11223146, essv11223147, essv11223148, essv11223153, essv11223152
SamplesNA21137, NA20846, NA18986, NA21129, NA20875, NA12234, NA19774, NA20849, NA12830, NA21091
Known GenesPRKCI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598622
Frequency
Sample Size2504
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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