A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv190e59



Internal ID22761410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149546353..149554357hg38UCSC Ensembl
chr1:144215795..144224481hg19UCSC Ensembl
chr1:142927152..142935850hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388005
hg198687
hg188699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3380056, esv3415288
SamplesNA19239, NA19240
Known GenesLOC100288142
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv190e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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