A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv279e59



Internal ID20127028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215805787..215806285hg38UCSC Ensembl
chr1:215979129..215979627hg19UCSC Ensembl
chr1:214045752..214046250hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38499
hg19499
hg18499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3398842, esv3419231
SamplesNA19239
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv279e59
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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