A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387765



Internal ID14888048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3029627..3032225hg38UCSC Ensembl
Innerchr4:3030627..3031225hg38UCSC Ensembl
Outerchr4:3028627..3033225hg38UCSC Ensembl
chr4:3031354..3033952hg19UCSC Ensembl
Innerchr4:3032354..3032952hg19UCSC Ensembl
Outerchr4:3030354..3034952hg19UCSC Ensembl
chr4:3001152..3003750hg18UCSC Ensembl
Innerchr4:3002152..3002750hg18UCSC Ensembl
Outerchr4:3000152..3004750hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694383
SamplesNA19239
Known GenesGRK4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387765
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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