A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401189



Internal ID15248152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59869047..59869210hg38UCSC Ensembl
Innerchr14:59869127..59869130hg38UCSC Ensembl
Outerchr14:59868964..59869293hg38UCSC Ensembl
chr14:60335765..60335928hg19UCSC Ensembl
Innerchr14:60335845..60335848hg19UCSC Ensembl
Outerchr14:60335682..60336011hg19UCSC Ensembl
chr14:59405518..59405681hg18UCSC Ensembl
Innerchr14:59405601..59405598hg18UCSC Ensembl
Outerchr14:59405435..59405764hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8966505, essv8966506, essv8966507
SamplesNA11994, NA18853, NA12154
Known GenesRTN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401189
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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