A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv298e59



Internal ID22761518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229148382..229149980hg38UCSC Ensembl
chr1:229284129..229285727hg19UCSC Ensembl
chr1:227350752..227352350hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3418319, esv3417911
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv298e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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