A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451204



Internal ID15298151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172484143..172486041hg38UCSC Ensembl
Innerchr5:172485041..172485143hg38UCSC Ensembl
Outerchr5:172483143..172487041hg38UCSC Ensembl
chr5:171911147..171913045hg19UCSC Ensembl
Innerchr5:171912045..171912147hg19UCSC Ensembl
Outerchr5:171910147..171914045hg19UCSC Ensembl
chr5:171843752..171845650hg18UCSC Ensembl
Innerchr5:171844752..171844650hg18UCSC Ensembl
Outerchr5:171842752..171846650hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694640
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451204
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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