A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380912



Internal ID14881187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:86053526..86053527hg38UCSC Ensembl
Innerchr9:86053522..86053531hg38UCSC Ensembl
Outerchr9:86053521..86053532hg38UCSC Ensembl
chr9:88668441..88668442hg19UCSC Ensembl
Innerchr9:88668437..88668446hg19UCSC Ensembl
Outerchr9:88668436..88668447hg19UCSC Ensembl
chr9:87858261..87858262hg18UCSC Ensembl
Innerchr9:87858266..87858257hg18UCSC Ensembl
Outerchr9:87858256..87858267hg18UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864940, essv7864941
SamplesNA18520, NA12005
Known GenesGOLM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380912
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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