A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11010066



Internal ID1011882
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596133
Supporting Variants
SamplesHG02419
Known GenesMST1R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11010066
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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