A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596483



Internal ID6983798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:68565375..68585960hg38UCSC Ensembl
chr3:68614526..68635111hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3820586
hg1920586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11031523
SamplesHG01704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596483
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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