A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392083



Internal ID15239048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63323560..63332258hg38UCSC Ensembl
Innerchr9:63324560..63331258hg38UCSC Ensembl
Outerchr9:63322560..63333258hg38UCSC Ensembl
chr9:67278532..67287230hg19UCSC Ensembl
Innerchr9:67279532..67286230hg19UCSC Ensembl
Outerchr9:67277532..67288230hg19UCSC Ensembl
chr9:66968352..66977050hg18UCSC Ensembl
Innerchr9:66969352..66976050hg18UCSC Ensembl
Outerchr9:66967352..66978050hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg388699
hg198699
hg188699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697125
SamplesNA19240
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392083
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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