A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2373e59



Internal ID22763593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239280319..239283217hg38UCSC Ensembl
chr2:240202015..240204913hg19UCSC Ensembl
chr2:239866952..239869850hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3334871, esv3389429
SamplesNA19238, NA19240
Known GenesHDAC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2373e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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