A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378984



Internal ID14879255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9974522..9974531hg38UCSC Ensembl
Innerchr4:9974522..9974531hg38UCSC Ensembl
Outerchr4:9974513..9974540hg38UCSC Ensembl
chr4:9976146..9976155hg19UCSC Ensembl
Innerchr4:9976146..9976155hg19UCSC Ensembl
Outerchr4:9976137..9976164hg19UCSC Ensembl
chr4:9585244..9585253hg18UCSC Ensembl
Innerchr4:9585253..9585244hg18UCSC Ensembl
Outerchr4:9585235..9585262hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864249
SamplesNA12005
Known GenesSLC2A9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378984
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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