A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356032



Internal ID15203013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123346352..123348150hg38UCSC Ensembl
Innerchr9:123347150..123347352hg38UCSC Ensembl
Outerchr9:123345352..123349150hg38UCSC Ensembl
chr9:126108631..126110429hg19UCSC Ensembl
Innerchr9:126109429..126109631hg19UCSC Ensembl
Outerchr9:126107631..126111429hg19UCSC Ensembl
chr9:125148452..125150250hg18UCSC Ensembl
Innerchr9:125149452..125149250hg18UCSC Ensembl
Outerchr9:125147452..125151250hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696518
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356032
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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