A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376931



Internal ID15223904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:63319060..63342258hg38UCSC Ensembl
Innerchr9:63320060..63341258hg38UCSC Ensembl
Outerchr9:63318060..63343258hg38UCSC Ensembl
chr9:67274032..67297230hg19UCSC Ensembl
Innerchr9:67275032..67296230hg19UCSC Ensembl
Outerchr9:67273032..67298230hg19UCSC Ensembl
chr9:66963852..66987050hg18UCSC Ensembl
Innerchr9:66964852..66986050hg18UCSC Ensembl
Outerchr9:66962852..66988050hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3823199
hg1923199
hg1823199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4399e59
Supporting Variantsessv8697124
SamplesNA12892
Known GenesAQP7P1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376931
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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