A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599312



Internal ID6986360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197486097..197562644hg38UCSC Ensembl
chr3:197212968..197289515hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3876548
hg1976548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11310310, essv11310309
SamplesHG02574, HG01503
Known GenesBDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599312
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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