A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443294



Internal ID15290247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62393655..62408453hg38UCSC Ensembl
Innerchr9:62394655..62407453hg38UCSC Ensembl
Outerchr9:62392655..62409453hg38UCSC Ensembl
chr9:46704956..46719754hg19UCSC Ensembl
Innerchr9:46705956..46718754hg19UCSC Ensembl
Outerchr9:46703956..46720754hg19UCSC Ensembl
chr9:46544952..46559750hg18UCSC Ensembl
Innerchr9:46545952..46558750hg18UCSC Ensembl
Outerchr9:46543952..46560750hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3814799
hg1914799
hg1814799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4372e59
Supporting Variantsessv8696969
SamplesNA12878
Known GenesKGFLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443294
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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