A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450991



Internal ID15297938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63326460..63330558hg38UCSC Ensembl
Innerchr9:63327460..63329558hg38UCSC Ensembl
Outerchr9:63325460..63331558hg38UCSC Ensembl
chr9:67281432..67285530hg19UCSC Ensembl
Innerchr9:67282432..67284530hg19UCSC Ensembl
Outerchr9:67280432..67286530hg19UCSC Ensembl
chr9:66971252..66975350hg18UCSC Ensembl
Innerchr9:66972252..66974350hg18UCSC Ensembl
Outerchr9:66970252..66976350hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697127
SamplesNA19238
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450991
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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