A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697371



Internal ID13665063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68237216..68249014hg38UCSC Ensembl
Innerchr9:68238216..68248014hg38UCSC Ensembl
Outerchr9:68236216..68250014hg38UCSC Ensembl
chr9:70852132..70863930hg19UCSC Ensembl
Innerchr9:70853132..70862930hg19UCSC Ensembl
Outerchr9:70851132..70864930hg19UCSC Ensembl
chr9:70041952..70053750hg18UCSC Ensembl
Innerchr9:70042952..70052750hg18UCSC Ensembl
Outerchr9:70040952..70054750hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3811799
hg1911799
hg1811799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3399368
Supporting Variants
SamplesNA12878
Known GenesCBWD3, CBWD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697371
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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