A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309192



Internal ID14809455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108328774..108328775hg38UCSC Ensembl
Innerchr3:108328744..108328805hg38UCSC Ensembl
Outerchr3:108328743..108328806hg38UCSC Ensembl
chr3:108047621..108047622hg19UCSC Ensembl
Innerchr3:108047591..108047652hg19UCSC Ensembl
Outerchr3:108047590..108047653hg19UCSC Ensembl
chr3:109530311..109530312hg18UCSC Ensembl
Innerchr3:109530342..109530281hg18UCSC Ensembl
Outerchr3:109530280..109530343hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38906
hg19906
hg18906
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837166, essv7837362
SamplesNA19239, NA19240
Known GenesHHLA2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309192
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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