A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596183



Internal ID6983500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54517825..54535838hg38UCSC Ensembl
chr3:54551852..54569865hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3818014
hg1918014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11015495
SamplesHG00458
Known GenesCACNA2D3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596183
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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