A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596132



Internal ID6636405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49882993..49887598hg38UCSC Ensembl
chr3:49920426..49925031hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384606
hg194606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv890e214
Supporting Variantsessv11010065
SamplesNA20527
Known GenesMST1R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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