A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599314



Internal ID6639579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197568268..197620119hg38UCSC Ensembl
chr3:197295139..197346990hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851852
hg1951852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11310315, essv11310314
SamplesHG02407, NA18510
Known GenesBDH1, LOC220729
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599314
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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