A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418634



Internal ID14918906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:397037..398435hg38UCSC Ensembl
Innerchr5:397435..398037hg38UCSC Ensembl
Outerchr5:396037..399435hg38UCSC Ensembl
chr5:397152..398550hg19UCSC Ensembl
Innerchr5:397550..398152hg19UCSC Ensembl
Outerchr5:396152..399550hg19UCSC Ensembl
chr5:450152..451550hg18UCSC Ensembl
Innerchr5:451152..450550hg18UCSC Ensembl
Outerchr5:449152..452550hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3184e59
Supporting Variantsessv8694768
SamplesNA19239
Known GenesAHRR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418634
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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