A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2930e59



Internal ID20129679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8069225..8070523hg38UCSC Ensembl
chr4:8070952..8072250hg19UCSC Ensembl
chr4:8121852..8123150hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3388002, esv3432274
SamplesNA19239, NA19240
Known GenesABLIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)dgv2930e59
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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