A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385810



Internal ID15232780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72337011..72339809hg38UCSC Ensembl
Innerchr3:72338011..72338809hg38UCSC Ensembl
Outerchr3:72336011..72340809hg38UCSC Ensembl
chr3:72386162..72388960hg19UCSC Ensembl
Innerchr3:72387162..72387960hg19UCSC Ensembl
Outerchr3:72385162..72389960hg19UCSC Ensembl
chr3:72468852..72471650hg18UCSC Ensembl
Innerchr3:72469852..72470650hg18UCSC Ensembl
Outerchr3:72467852..72472650hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694122
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385810
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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