A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385258



Internal ID15232228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41768878..41769876hg38UCSC Ensembl
Innerchr4:41768877..41769877hg38UCSC Ensembl
Outerchr4:41767878..41770876hg38UCSC Ensembl
chr4:41770895..41771893hg19UCSC Ensembl
Innerchr4:41770894..41771894hg19UCSC Ensembl
Outerchr4:41769895..41772893hg19UCSC Ensembl
chr4:41465652..41466650hg18UCSC Ensembl
Innerchr4:41466651..41465651hg18UCSC Ensembl
Outerchr4:41464652..41467650hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694421
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385258
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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