A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388106



Internal ID15235075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191025269..191027267hg38UCSC Ensembl
Innerchr3:191026267..191026269hg38UCSC Ensembl
Outerchr3:191024269..191028267hg38UCSC Ensembl
chr3:190743058..190745056hg19UCSC Ensembl
Innerchr3:190744056..190744058hg19UCSC Ensembl
Outerchr3:190742058..190746056hg19UCSC Ensembl
chr3:192225752..192227750hg18UCSC Ensembl
Innerchr3:192226752..192226750hg18UCSC Ensembl
Outerchr3:192224752..192228750hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693900
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388106
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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