A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv54e59



Internal ID20126803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16856670..16949868hg38UCSC Ensembl
chr1:17183165..17276363hg19UCSC Ensembl
chr1:17055752..17148950hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3893199
hg1993199
hg1893199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3406942, esv3380286
SamplesNA19239, NA19240
Known GenesCROCC, MIR3675
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv54e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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