A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693880



Internal ID15039629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171373769..171375067hg38UCSC Ensembl
Innerchr3:171374067..171374769hg38UCSC Ensembl
Outerchr3:171372769..171376067hg38UCSC Ensembl
chr3:171091558..171092856hg19UCSC Ensembl
Innerchr3:171091856..171092558hg19UCSC Ensembl
Outerchr3:171090558..171093856hg19UCSC Ensembl
chr3:172574252..172575550hg18UCSC Ensembl
Innerchr3:172575252..172574550hg18UCSC Ensembl
Outerchr3:172573252..172576550hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3385448
Supporting Variants
SamplesNA19239
Known GenesTNIK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693880
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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