A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv201e59



Internal ID18985702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148590430..148745626hg38UCSC Ensembl
chr1:145143595..145298693hg19UCSC Ensembl
chr1:143854952..144010050hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38155197
hg19155099
hg18155099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3390875, esv3380232
SamplesNA12892, NA12891
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv201e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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