A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306138



Internal ID14806400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:10468986..10468987hg38UCSC Ensembl
Innerchr3:10468937..10469036hg38UCSC Ensembl
Outerchr3:10468936..10469037hg38UCSC Ensembl
chr3:10510670..10510671hg19UCSC Ensembl
Innerchr3:10510621..10510720hg19UCSC Ensembl
Outerchr3:10510620..10510721hg19UCSC Ensembl
chr3:10485670..10485671hg18UCSC Ensembl
Innerchr3:10485720..10485621hg18UCSC Ensembl
Outerchr3:10485620..10485721hg18UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744929, essv7760627
SamplesNA18552, NA18944
Known GenesATP2B2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306138
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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