A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838245



Internal ID13698079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60274666..60274667hg38UCSC Ensembl
Innerchr14:60274637..60274696hg38UCSC Ensembl
Outerchr14:60274636..60274697hg38UCSC Ensembl
chr14:60741384..60741385hg19UCSC Ensembl
Innerchr14:60741355..60741414hg19UCSC Ensembl
Outerchr14:60741354..60741415hg19UCSC Ensembl
chr14:59811137..59811138hg18UCSC Ensembl
Innerchr14:59811167..59811108hg18UCSC Ensembl
Outerchr14:59811107..59811168hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309874
Supporting Variants
SamplesNA12891
Known GenesPPM1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838245
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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