A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864940



Internal ID12970932
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 StatusS
Merged Variantsesv3380912
Supporting Variants
SamplesNA12005
Known GenesGOLM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864940
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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