A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11223151



Internal ID1224967
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598622
Supporting Variants
SamplesNA20849
Known GenesPRKCI
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11223151
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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