A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366165



Internal ID15213142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152251050..152252748hg38UCSC Ensembl
Innerchr4:152251748..152252050hg38UCSC Ensembl
Outerchr4:152250050..152253748hg38UCSC Ensembl
chr4:153172202..153173900hg19UCSC Ensembl
Innerchr4:153172900..153173202hg19UCSC Ensembl
Outerchr4:153171202..153174900hg19UCSC Ensembl
chr4:153391652..153393350hg18UCSC Ensembl
Innerchr4:153392652..153392350hg18UCSC Ensembl
Outerchr4:153390652..153394350hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694248
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366165
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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