A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447918



Internal ID15294867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64400469..64407258hg38UCSC Ensembl
Innerchr9:64401469..64406260hg38UCSC Ensembl
Outerchr9:64399466..64408256hg38UCSC Ensembl
chr9:43095856..43102654hg19UCSC Ensembl
Innerchr9:43096856..43101654hg19UCSC Ensembl
Outerchr9:43094856..43103654hg19UCSC Ensembl
chr9:43085852..43092650hg18UCSC Ensembl
Innerchr9:43086852..43091650hg18UCSC Ensembl
Outerchr9:43084852..43093650hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg386790
hg196799
hg186799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4353e59
Supporting Variantsessv8696827
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447918
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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