A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161436



Internal ID8252782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62105992..62267614hg38UCSC Ensembl
Innerchr14:62572710..62734332hg19UCSC Ensembl
Innerchr14:61642463..61804085hg18UCSC Ensembl
Innerchr14:61642463..61804085hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38161623
hg19161623
hg18161623
hg17161623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422467
Supporting Variants
SamplesND03096
Known GenesLINC00643, LINC00644
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161436
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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