A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697197



Internal ID13732503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41185103..41195101hg38UCSC Ensembl
Innerchr9:41186103..41194101hg38UCSC Ensembl
Outerchr9:41184103..41196101hg38UCSC Ensembl
chr9:69258332..69268330hg19UCSC Ensembl
Innerchr9:69259332..69267330hg19UCSC Ensembl
Outerchr9:69257332..69269330hg19UCSC Ensembl
chr9:68548152..68558150hg18UCSC Ensembl
Innerchr9:68549152..68557150hg18UCSC Ensembl
Outerchr9:68547152..68559150hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg389999
hg199999
hg189999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3416825
Supporting Variants
SamplesNA12892
Known GenesCBWD5, CBWD6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697197
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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