A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337221



Internal ID15184209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65223726..65229324hg38UCSC Ensembl
Innerchr9:65224726..65228324hg38UCSC Ensembl
Outerchr9:65222726..65230324hg38UCSC Ensembl
chr9:70117332..70122930hg19UCSC Ensembl
Innerchr9:70118332..70121930hg19UCSC Ensembl
Outerchr9:70116332..70123930hg19UCSC Ensembl
chr9:69407152..69412750hg18UCSC Ensembl
Innerchr9:69408152..69411750hg18UCSC Ensembl
Outerchr9:69406152..69413750hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg385599
hg195599
hg185599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697302
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337221
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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