A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697119



Internal ID13732782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63315060..63318258hg38UCSC Ensembl
Innerchr9:63316060..63317258hg38UCSC Ensembl
Outerchr9:63314060..63319258hg38UCSC Ensembl
chr9:67270032..67273230hg19UCSC Ensembl
Innerchr9:67271032..67272230hg19UCSC Ensembl
Outerchr9:67269032..67274230hg19UCSC Ensembl
chr9:66959852..66963050hg18UCSC Ensembl
Innerchr9:66960852..66962050hg18UCSC Ensembl
Outerchr9:66958852..66964050hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432950
Supporting Variants
SamplesNA12892
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697119
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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