A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689434



Internal ID15093197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19750653..19776951hg38UCSC Ensembl
Innerchr14:19751653..19775951hg38UCSC Ensembl
Outerchr14:19749653..19777951hg38UCSC Ensembl
chr14:20218812..20245110hg19UCSC Ensembl
Innerchr14:20219812..20244110hg19UCSC Ensembl
Outerchr14:20217812..20246110hg19UCSC Ensembl
chr14:19288652..19314950hg18UCSC Ensembl
Innerchr14:19289652..19313950hg18UCSC Ensembl
Outerchr14:19287652..19315950hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3826299
hg1926299
hg1826299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3349928
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689434
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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