A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442973



Internal ID15289926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49519078..49550076hg38UCSC Ensembl
Innerchr4:49520078..49549076hg38UCSC Ensembl
Outerchr4:49518078..49551076hg38UCSC Ensembl
chr4:49521095..49552093hg19UCSC Ensembl
Innerchr4:49522095..49551093hg19UCSC Ensembl
Outerchr4:49520095..49553093hg19UCSC Ensembl
chr4:49215852..49246850hg18UCSC Ensembl
Innerchr4:49216852..49245850hg18UCSC Ensembl
Outerchr4:49214852..49247850hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3830999
hg1930999
hg1830999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2978e59
Supporting Variantsessv8694437
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442973
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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