A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395094



Internal ID15242058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89369417..89370815hg38UCSC Ensembl
Innerchr9:89369815..89370417hg38UCSC Ensembl
Outerchr9:89368417..89371815hg38UCSC Ensembl
chr9:91984332..91985730hg19UCSC Ensembl
Innerchr9:91984730..91985332hg19UCSC Ensembl
Outerchr9:91983332..91986730hg19UCSC Ensembl
chr9:91174152..91175550hg18UCSC Ensembl
Innerchr9:91175152..91174550hg18UCSC Ensembl
Outerchr9:91173152..91176550hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697413
SamplesNA19240
Known GenesSEMA4D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395094
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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