A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696702



Internal ID13658366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40239038..40245036hg38UCSC Ensembl
Innerchr9:40240038..40244036hg38UCSC Ensembl
Outerchr9:40238038..40246036hg38UCSC Ensembl
chr9:42384056..42390054hg19UCSC Ensembl
Innerchr9:42385056..42389054hg19UCSC Ensembl
Outerchr9:42383056..42391054hg19UCSC Ensembl
chr9:42374052..42380050hg18UCSC Ensembl
Innerchr9:42375052..42379050hg18UCSC Ensembl
Outerchr9:42373052..42381050hg18UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3325970
Supporting Variants
SamplesNA12878
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696702
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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