A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444900



Internal ID14945166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172089243..172090141hg38UCSC Ensembl
Innerchr5:172089242..172090142hg38UCSC Ensembl
Outerchr5:172088243..172091141hg38UCSC Ensembl
chr5:171516247..171517145hg19UCSC Ensembl
Innerchr5:171516246..171517146hg19UCSC Ensembl
Outerchr5:171515247..171518145hg19UCSC Ensembl
chr5:171448852..171449750hg18UCSC Ensembl
Innerchr5:171449751..171448851hg18UCSC Ensembl
Outerchr5:171447852..171450750hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694638
SamplesNA19239
Known GenesSTK10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444900
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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