A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3345323



Internal ID15192307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64380845..64391835hg38UCSC Ensembl
Innerchr9:64381845..64390836hg38UCSC Ensembl
Outerchr9:64379845..64392840hg38UCSC Ensembl
chr9:43111256..43122254hg19UCSC Ensembl
Innerchr9:43112256..43121254hg19UCSC Ensembl
Outerchr9:43110256..43123254hg19UCSC Ensembl
chr9:43101252..43112250hg18UCSC Ensembl
Innerchr9:43102252..43111250hg18UCSC Ensembl
Outerchr9:43100252..43113250hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3810991
hg1910999
hg1810999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696829
SamplesNA12892
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3345323
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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