A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596133



Internal ID6636406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49882993..49887598hg38UCSC Ensembl
chr3:49920426..49925031hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384606
hg194606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11010067, essv11010066, essv11010068
SamplesHG02419, NA18618, HG02817
Known GenesMST1R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596133
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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