A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331502



Internal ID15178491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62408955..62417953hg38UCSC Ensembl
Innerchr9:62409955..62416953hg38UCSC Ensembl
Outerchr9:62407955..62418953hg38UCSC Ensembl
chr9:46720256..46729254hg19UCSC Ensembl
Innerchr9:46721256..46728254hg19UCSC Ensembl
Outerchr9:46719256..46730254hg19UCSC Ensembl
chr9:46560252..46569250hg18UCSC Ensembl
Innerchr9:46561252..46568250hg18UCSC Ensembl
Outerchr9:46559252..46570250hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg388999
hg198999
hg188999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4373e59
Supporting Variantsessv8696972
SamplesNA12878
Known GenesKGFLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331502
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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