A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375199



Internal ID15222174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59427620..59427641hg38UCSC Ensembl
Innerchr14:59427623..59427638hg38UCSC Ensembl
Outerchr14:59427602..59427659hg38UCSC Ensembl
chr14:59894338..59894359hg19UCSC Ensembl
Innerchr14:59894341..59894356hg19UCSC Ensembl
Outerchr14:59894320..59894377hg19UCSC Ensembl
chr14:58964091..58964112hg18UCSC Ensembl
Innerchr14:58964109..58964094hg18UCSC Ensembl
Outerchr14:58964073..58964130hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673014
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375199
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