A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696832



Internal ID13659425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64378550..64384441hg38UCSC Ensembl
Innerchr9:64379545..64383441hg38UCSC Ensembl
Outerchr9:64377550..64385441hg38UCSC Ensembl
chr9:43118656..43124554hg19UCSC Ensembl
Innerchr9:43119656..43123554hg19UCSC Ensembl
Outerchr9:43117656..43125554hg19UCSC Ensembl
chr9:43108652..43114550hg18UCSC Ensembl
Innerchr9:43109652..43113550hg18UCSC Ensembl
Outerchr9:43107652..43115550hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg385892
hg195899
hg185899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3367902
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696832
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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