A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385387



Internal ID15232357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64370414..64375512hg38UCSC Ensembl
Innerchr9:64371414..64374512hg38UCSC Ensembl
Outerchr9:64369414..64376512hg38UCSC Ensembl
chr9:69382832..69387930hg19UCSC Ensembl
Innerchr9:69383832..69386930hg19UCSC Ensembl
Outerchr9:69381832..69388930hg19UCSC Ensembl
chr9:68672652..68677750hg18UCSC Ensembl
Innerchr9:68673652..68676750hg18UCSC Ensembl
Outerchr9:68671652..68678750hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg385099
hg195099
hg185099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697205
SamplesNA12878
Known GenesANKRD20A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385387
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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