A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302999



Internal ID15149947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138451877..138452061hg38UCSC Ensembl
Innerchr3:138451969..138451969hg38UCSC Ensembl
Outerchr3:138451777..138452161hg38UCSC Ensembl
chr3:138170719..138170903hg19UCSC Ensembl
Innerchr3:138170811..138170811hg19UCSC Ensembl
Outerchr3:138170619..138171003hg19UCSC Ensembl
chr3:139653409..139653593hg18UCSC Ensembl
Innerchr3:139653501..139653501hg18UCSC Ensembl
Outerchr3:139653309..139653693hg18UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38185
hg19185
hg18185
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7739108, essv7736509, essv7735561, essv7734077, essv7732369, essv7737159, essv7733628
SamplesNA18508, NA19190, NA19099, NA18523, NA18517, NA18505, NA18511
Known GenesESYT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302999
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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