A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347792



Internal ID15194774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62798833..62863706hg38UCSC Ensembl
Innerchr9:62799808..62862706hg38UCSC Ensembl
Outerchr9:62798833..62864706hg38UCSC Ensembl
chr9:66454657..66519530hg19UCSC Ensembl
Innerchr9:66455632..66518530hg19UCSC Ensembl
Outerchr9:66454657..66520530hg19UCSC Ensembl
chr9:66194452..66259350hg18UCSC Ensembl
Innerchr9:66195452..66258350hg18UCSC Ensembl
Outerchr9:66193452..66260350hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3864874
hg1964874
hg1864899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4388e59
Supporting Variantsessv8697039
SamplesNA19238
Known GenesPTGER4P2-CDK2AP2P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347792
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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