A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305693



Internal ID15152641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74259426..74259427hg38UCSC Ensembl
Innerchr14:74259397..74259456hg38UCSC Ensembl
Outerchr14:74259396..74259457hg38UCSC Ensembl
chr14:74726129..74726130hg19UCSC Ensembl
Innerchr14:74726100..74726159hg19UCSC Ensembl
Outerchr14:74726099..74726160hg19UCSC Ensembl
chr14:73795882..73795883hg18UCSC Ensembl
Innerchr14:73795912..73795853hg18UCSC Ensembl
Outerchr14:73795852..73795913hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7747726, essv7763242, essv7751556, essv7754690, essv7760040, essv7746858
SamplesNA18861, NA18507, NA19138, NA18907, NA19225, NA18501
Known GenesVSX2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305693
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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