A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696521



Internal ID15099116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123970352..123974350hg38UCSC Ensembl
Innerchr9:123971352..123973350hg38UCSC Ensembl
Outerchr9:123969352..123975350hg38UCSC Ensembl
chr9:126732631..126736629hg19UCSC Ensembl
Innerchr9:126733631..126735629hg19UCSC Ensembl
Outerchr9:126731631..126737629hg19UCSC Ensembl
chr9:125772452..125776450hg18UCSC Ensembl
Innerchr9:125773452..125775450hg18UCSC Ensembl
Outerchr9:125771452..125777450hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383999
hg193999
hg183999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3382051
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696521
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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