A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397468



Internal ID15244431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:42637765..42645163hg38UCSC Ensembl
Innerchr9:42638765..42644163hg38UCSC Ensembl
Outerchr9:42636765..42646163hg38UCSC Ensembl
chr9:44325956..44333354hg19UCSC Ensembl
Innerchr9:44326956..44332354hg19UCSC Ensembl
Outerchr9:44324956..44334354hg19UCSC Ensembl
chr9:44265952..44273350hg18UCSC Ensembl
Innerchr9:44266952..44272350hg18UCSC Ensembl
Outerchr9:44264952..44274350hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg387399
hg197399
hg187399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4355e59
Supporting Variantsessv8696850
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397468
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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