A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402599



Internal ID15249561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49205178..49336876hg38UCSC Ensembl
Innerchr4:49206178..49335876hg38UCSC Ensembl
Outerchr4:49204178..49336924hg38UCSC Ensembl
chr4:49207195..49338893hg19UCSC Ensembl
Innerchr4:49208195..49337893hg19UCSC Ensembl
Outerchr4:49206195..49338941hg19UCSC Ensembl
chr4:48901952..49033650hg18UCSC Ensembl
Innerchr4:48902952..49032650hg18UCSC Ensembl
Outerchr4:48900952..49034650hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38131699
hg19131699
hg18131699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2976e59
Supporting Variantsessv8694435
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402599
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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