A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390715



Internal ID15237682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54865044..54865055hg38UCSC Ensembl
Innerchr14:54865023..54865076hg38UCSC Ensembl
Outerchr14:54865012..54865087hg38UCSC Ensembl
chr14:55331762..55331773hg19UCSC Ensembl
Innerchr14:55331741..55331794hg19UCSC Ensembl
Outerchr14:55331730..55331805hg19UCSC Ensembl
chr14:54401512..54401523hg18UCSC Ensembl
Innerchr14:54401544..54401491hg18UCSC Ensembl
Outerchr14:54401480..54401555hg18UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865734
SamplesNA12005
Known GenesGCH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390715
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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