A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578681



Internal ID7050063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103131986..103132045hg38UCSC Ensembl
chr14:103598323..103598382hg19UCSC Ensembl
chr14:102668076..102668135hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995383
Supporting Variants
SamplesHuRef
Known GenesTNFAIP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578681
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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