A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843537



Internal ID15084303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48089291..48090362hg38UCSC Ensembl
Outerchr17:48089291..48090362hg38UCSC Ensembl
Innerchr17:46166653..46167724hg19UCSC Ensembl
Outerchr17:46166653..46167724hg19UCSC Ensembl
Innerchr17:43522723..43521652hg18UCSC Ensembl
Outerchr17:43521652..43522723hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg381694
hg191694
hg181694
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310437
Supporting Variants
SamplesNA19240
Known GenesCBX1
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843537
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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