A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447879



Internal ID15294828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140286748..140289246hg38UCSC Ensembl
Innerchr4:140287748..140288246hg38UCSC Ensembl
Outerchr4:140285748..140290246hg38UCSC Ensembl
chr4:141207902..141210400hg19UCSC Ensembl
Innerchr4:141208902..141209400hg19UCSC Ensembl
Outerchr4:141206902..141211400hg19UCSC Ensembl
chr4:141427352..141429850hg18UCSC Ensembl
Innerchr4:141428352..141428850hg18UCSC Ensembl
Outerchr4:141426352..141430850hg18UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3087e59
Supporting Variantsessv8694230
SamplesNA19240
Known GenesLOC100129858, SCOC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447879
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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