A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697327



Internal ID13386905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:65661115..65678513hg38UCSC Ensembl
Innerchr9:65662115..65677513hg38UCSC Ensembl
Outerchr9:65660144..65679513hg38UCSC Ensembl
chr9:70487532..70504930hg19UCSC Ensembl
Innerchr9:70488532..70503930hg19UCSC Ensembl
Outerchr9:70486532..70505930hg19UCSC Ensembl
chr9:69727352..69744750hg18UCSC Ensembl
Innerchr9:69728352..69743750hg18UCSC Ensembl
Outerchr9:69726352..69745750hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3817399
hg1917399
hg1817399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3449709
Supporting Variants
SamplesNA12892
Known GenesCBWD3, CBWD5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697327
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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