A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697121



Internal ID15103460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63315060..63321158hg38UCSC Ensembl
Innerchr9:63316060..63320158hg38UCSC Ensembl
Outerchr9:63314060..63322158hg38UCSC Ensembl
chr9:67270032..67276130hg19UCSC Ensembl
Innerchr9:67271032..67275130hg19UCSC Ensembl
Outerchr9:67269032..67277130hg19UCSC Ensembl
chr9:66959852..66965950hg18UCSC Ensembl
Innerchr9:66960852..66964950hg18UCSC Ensembl
Outerchr9:66958852..66966950hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg386099
hg196099
hg186099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3328216
Supporting Variants
SamplesNA19240
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697121
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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