A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697126



Internal ID13706955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63323560..63341858hg38UCSC Ensembl
Innerchr9:63324560..63340858hg38UCSC Ensembl
Outerchr9:63322560..63342858hg38UCSC Ensembl
chr9:67278532..67296830hg19UCSC Ensembl
Innerchr9:67279532..67295830hg19UCSC Ensembl
Outerchr9:67277532..67297830hg19UCSC Ensembl
chr9:66968352..66986650hg18UCSC Ensembl
Innerchr9:66969352..66985650hg18UCSC Ensembl
Outerchr9:66967352..66987650hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3818299
hg1918299
hg1818299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3391973
Supporting Variants
SamplesNA12891
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697126
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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