A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407444



Internal ID15254406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19750353..19775351hg38UCSC Ensembl
Innerchr14:19751353..19774351hg38UCSC Ensembl
Outerchr14:19749353..19776351hg38UCSC Ensembl
chr14:20218512..20243510hg19UCSC Ensembl
Innerchr14:20219512..20242510hg19UCSC Ensembl
Outerchr14:20217512..20244510hg19UCSC Ensembl
chr14:19288352..19313350hg18UCSC Ensembl
Innerchr14:19289352..19312350hg18UCSC Ensembl
Outerchr14:19287352..19314350hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3824999
hg1924999
hg1824999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1196e59
Supporting Variantsessv8689433
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407444
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer