A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619184



Internal ID7006064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:319775..547052hg38UCSC Ensembl
chr9:319775..547052hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38227278
hg19227278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1431e214
Supporting Variantsessv13374862, essv13374863, essv13374864, essv13374867, essv13374866, essv13374865
SamplesHG01806, HG01686, HG03577, HG03803, NA20819, HG04152
Known GenesDOCK8, KANK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619184
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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