A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3353735



Internal ID15200716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59533985..59534006hg38UCSC Ensembl
Innerchr14:59533987..59534004hg38UCSC Ensembl
Outerchr14:59533983..59534008hg38UCSC Ensembl
chr14:60000703..60000724hg19UCSC Ensembl
Innerchr14:60000705..60000722hg19UCSC Ensembl
Outerchr14:60000701..60000726hg19UCSC Ensembl
chr14:59070456..59070477hg18UCSC Ensembl
Innerchr14:59070458..59070475hg18UCSC Ensembl
Outerchr14:59070454..59070479hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865741
SamplesNA11992
Known GenesCCDC175
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3353735
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