A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14646863



Internal ID4648679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131909102..131947534hg38UCSC Ensembl
chr12:132393647..132432079hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3838433
hg1938433
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631281
Supporting Variants
SamplesHG04182
Known GenesPUS1, ULK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14646863
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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