A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386579



Internal ID15233548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49091178..49204376hg38UCSC Ensembl
Innerchr4:49092178..49203376hg38UCSC Ensembl
Outerchr4:49090178..49205376hg38UCSC Ensembl
chr4:49093195..49206393hg19UCSC Ensembl
Innerchr4:49094195..49205393hg19UCSC Ensembl
Outerchr4:49092195..49207393hg19UCSC Ensembl
chr4:48787952..48901150hg18UCSC Ensembl
Innerchr4:48788952..48900150hg18UCSC Ensembl
Outerchr4:48786952..48902150hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38113199
hg19113199
hg18113199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2974e59
Supporting Variantsessv8694428
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386579
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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