A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363716



Internal ID15210694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30552358..30552358hg38UCSC Ensembl
Innerchr5:30552357..30552359hg38UCSC Ensembl
Outerchr5:30552308..30552408hg38UCSC Ensembl
chr5:30552465..30552465hg19UCSC Ensembl
Innerchr5:30552464..30552466hg19UCSC Ensembl
Outerchr5:30552415..30552515hg19UCSC Ensembl
chr5:30588222..30588222hg18UCSC Ensembl
Innerchr5:30588223..30588221hg18UCSC Ensembl
Outerchr5:30588172..30588272hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38512
hg19512
hg18512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741191
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363716
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer