A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432950



Internal ID15279906
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 StatusM
Merged Variants
Supporting Variantsessv8697119
SamplesNA12892
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432950
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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