A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731489



Internal ID13623840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154189481..154189533hg38UCSC Ensembl
Innerchr4:154189506..154189507hg38UCSC Ensembl
Outerchr4:154189381..154189633hg38UCSC Ensembl
chr4:155110633..155110685hg19UCSC Ensembl
Innerchr4:155110658..155110659hg19UCSC Ensembl
Outerchr4:155110533..155110785hg19UCSC Ensembl
chr4:155330083..155330135hg18UCSC Ensembl
Innerchr4:155330109..155330108hg18UCSC Ensembl
Outerchr4:155329983..155330235hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302529
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731489
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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