A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386160



Internal ID14886442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1078464..1079762hg38UCSC Ensembl
Innerchr4:1078762..1079464hg38UCSC Ensembl
Outerchr4:1077464..1080762hg38UCSC Ensembl
chr4:1072252..1073550hg19UCSC Ensembl
Innerchr4:1072550..1073252hg19UCSC Ensembl
Outerchr4:1071252..1074550hg19UCSC Ensembl
chr4:1062252..1063550hg18UCSC Ensembl
Innerchr4:1063252..1062550hg18UCSC Ensembl
Outerchr4:1061252..1064550hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694194
SamplesNA19239
Known GenesRNF212
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386160
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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