A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2379e59



Internal ID20129128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241589864..241591262hg38UCSC Ensembl
chr2:242529279..242530677hg19UCSC Ensembl
chr2:242177952..242179350hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3331030, esv3374597, esv3442695
SamplesNA19238, NA19239, NA19240
Known GenesTHAP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2379e59
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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