A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599309



Internal ID6639574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197393955..197584204hg38UCSC Ensembl
chr3:197120826..197311075hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38190250
hg19190250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11310306
SamplesHG02574
Known GenesBDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599309
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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