A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696539



Internal ID15099787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133495209..133496507hg38UCSC Ensembl
Innerchr9:133495507..133496209hg38UCSC Ensembl
Outerchr9:133494209..133497507hg38UCSC Ensembl
chr9:136360331..136361629hg19UCSC Ensembl
Innerchr9:136360629..136361331hg19UCSC Ensembl
Outerchr9:136359331..136362629hg19UCSC Ensembl
chr9:135350152..135351450hg18UCSC Ensembl
Innerchr9:135351152..135350450hg18UCSC Ensembl
Outerchr9:135349152..135352450hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380362
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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