A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375539



Internal ID15222514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49091178..49203876hg38UCSC Ensembl
Innerchr4:49092178..49202876hg38UCSC Ensembl
Outerchr4:49090178..49204876hg38UCSC Ensembl
chr4:49093195..49205893hg19UCSC Ensembl
Innerchr4:49094195..49204893hg19UCSC Ensembl
Outerchr4:49092195..49206893hg19UCSC Ensembl
chr4:48787952..48900650hg18UCSC Ensembl
Innerchr4:48788952..48899650hg18UCSC Ensembl
Outerchr4:48786952..48901650hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38112699
hg19112699
hg18112699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2974e59
Supporting Variantsessv8694426
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375539
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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