A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697040



Internal ID13706708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62798833..62864406hg38UCSC Ensembl
Innerchr9:62799808..62863406hg38UCSC Ensembl
Outerchr9:62798833..62865406hg38UCSC Ensembl
chr9:66454657..66520230hg19UCSC Ensembl
Innerchr9:66455632..66519230hg19UCSC Ensembl
Outerchr9:66454657..66521230hg19UCSC Ensembl
chr9:66194452..66260050hg18UCSC Ensembl
Innerchr9:66195452..66259050hg18UCSC Ensembl
Outerchr9:66193452..66261050hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3865574
hg1965574
hg1865599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3322660
Supporting Variants
SamplesNA12891
Known GenesPTGER4P2-CDK2AP2P2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697040
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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