A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442046



Internal ID15288999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68220553..68226814hg38UCSC Ensembl
Innerchr9:68221516..68225814hg38UCSC Ensembl
Outerchr9:68220553..68227814hg38UCSC Ensembl
chr9:70835469..70841730hg19UCSC Ensembl
Innerchr9:70836432..70840730hg19UCSC Ensembl
Outerchr9:70835469..70842730hg19UCSC Ensembl
chr9:70025252..70031550hg18UCSC Ensembl
Innerchr9:70026252..70030550hg18UCSC Ensembl
Outerchr9:70024252..70032550hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg386262
hg196262
hg186299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4437e59
Supporting Variantsessv8697366
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442046
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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