A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343885



Internal ID15190869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21581833..21590818hg38UCSC Ensembl
Innerchr14:21581847..21590804hg38UCSC Ensembl
Outerchr14:21581819..21590832hg38UCSC Ensembl
chr14:22049967..22058937hg19UCSC Ensembl
Innerchr14:22049981..22058923hg19UCSC Ensembl
Outerchr14:22049953..22058951hg19UCSC Ensembl
chr14:21119807..21128777hg18UCSC Ensembl
Innerchr14:21119821..21128763hg18UCSC Ensembl
Outerchr14:21119793..21128791hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg388986
hg198971
hg188971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1211e59
Supporting Variantsessv8670645, essv8670646, essv8670647
SamplesNA19238, NA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343885
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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