A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596678



Internal ID6983992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78108666..78127517hg38UCSC Ensembl
chr3:78157817..78176668hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3818852
hg1918852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11049161
SamplesNA20885
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596678
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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