A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340597



Internal ID14840867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144685662..144685684hg38UCSC Ensembl
Innerchr4:144685627..144685719hg38UCSC Ensembl
Outerchr4:144685605..144685741hg38UCSC Ensembl
chr4:145606814..145606836hg19UCSC Ensembl
Innerchr4:145606779..145606871hg19UCSC Ensembl
Outerchr4:145606757..145606893hg19UCSC Ensembl
chr4:145826264..145826286hg18UCSC Ensembl
Innerchr4:145826321..145826229hg18UCSC Ensembl
Outerchr4:145826207..145826343hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864378
SamplesNA12005
Known GenesHHIP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340597
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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