A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737388



Internal ID14367670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82625429..82628067hg38UCSC Ensembl
Outerchr4:82625229..82628267hg38UCSC Ensembl
Innerchr4:83546582..83549220hg19UCSC Ensembl
Outerchr4:83546382..83549420hg19UCSC Ensembl
Innerchr4:83765606..83768244hg18UCSC Ensembl
Outerchr4:83765406..83768444hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg383039
hg193039
hg183039
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302904
Supporting Variants
SamplesNA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737388
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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