A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383551



Internal ID14883827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129256519..129257817hg38UCSC Ensembl
Innerchr3:129256817..129257519hg38UCSC Ensembl
Outerchr3:129255519..129258817hg38UCSC Ensembl
chr3:128975362..128976660hg19UCSC Ensembl
Innerchr3:128975660..128976362hg19UCSC Ensembl
Outerchr3:128974362..128977660hg19UCSC Ensembl
chr3:130458052..130459350hg18UCSC Ensembl
Innerchr3:130459052..130458350hg18UCSC Ensembl
Outerchr3:130457052..130460350hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693835
SamplesNA19239
Known GenesCOPG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383551
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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