A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359157



Internal ID14859419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:10468984..10469026hg38UCSC Ensembl
Innerchr3:10468994..10469014hg38UCSC Ensembl
Outerchr3:10468952..10469058hg38UCSC Ensembl
chr3:10510668..10510710hg19UCSC Ensembl
Innerchr3:10510678..10510698hg19UCSC Ensembl
Outerchr3:10510636..10510742hg19UCSC Ensembl
chr3:10485668..10485710hg18UCSC Ensembl
Innerchr3:10485698..10485678hg18UCSC Ensembl
Outerchr3:10485636..10485742hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911989, essv8911988
SamplesNA18552, NA18944
Known GenesATP2B2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359157
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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