A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308454



Internal ID14808717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191281664..191281665hg38UCSC Ensembl
Innerchr3:191281648..191281681hg38UCSC Ensembl
Outerchr3:191281647..191281682hg38UCSC Ensembl
chr3:190999453..190999454hg19UCSC Ensembl
Innerchr3:190999437..190999470hg19UCSC Ensembl
Outerchr3:190999436..190999471hg19UCSC Ensembl
chr3:192482147..192482148hg18UCSC Ensembl
Innerchr3:192482164..192482131hg18UCSC Ensembl
Outerchr3:192482130..192482165hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7841360, essv7842736, essv7841930, essv7843053, essv7839818
SamplesNA19238, NA19239, NA12878, NA12892, NA19240
Known GenesUTS2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308454
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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