A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697117



Internal ID13662429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63304160..63314158hg38UCSC Ensembl
Innerchr9:63305160..63313158hg38UCSC Ensembl
Outerchr9:63303160..63315158hg38UCSC Ensembl
chr9:67259132..67269130hg19UCSC Ensembl
Innerchr9:67260132..67268130hg19UCSC Ensembl
Outerchr9:67258132..67270130hg19UCSC Ensembl
chr9:66948952..66958950hg18UCSC Ensembl
Innerchr9:66949952..66957950hg18UCSC Ensembl
Outerchr9:66947952..66959950hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg389999
hg199999
hg189999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3385755
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697117
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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