A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309963



Internal ID15156914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93400369..93400370hg38UCSC Ensembl
Innerchr14:93400340..93400399hg38UCSC Ensembl
Outerchr14:93400339..93400400hg38UCSC Ensembl
chr14:93866715..93866716hg19UCSC Ensembl
Innerchr14:93866686..93866745hg19UCSC Ensembl
Outerchr14:93866685..93866746hg19UCSC Ensembl
chr14:92936468..92936469hg18UCSC Ensembl
Innerchr14:92936498..92936439hg18UCSC Ensembl
Outerchr14:92936438..92936499hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837276, essv7837155
SamplesNA19239, NA19240
Known GenesUNC79
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309963
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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