A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303789



Internal ID14804051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150040541..150040542hg38UCSC Ensembl
Innerchr3:150040495..150040588hg38UCSC Ensembl
Outerchr3:150040494..150040589hg38UCSC Ensembl
chr3:149758328..149758329hg19UCSC Ensembl
Innerchr3:149758282..149758375hg19UCSC Ensembl
Outerchr3:149758281..149758376hg19UCSC Ensembl
chr3:151241018..151241019hg18UCSC Ensembl
Innerchr3:151241065..151240972hg18UCSC Ensembl
Outerchr3:151240971..151241066hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38191
hg19191
hg18191
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755878, essv7741538, essv7755086, essv7744214, essv7762230
SamplesNA18510, NA18489, NA18871, NA18523, NA19102
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303789
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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