A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994338



Internal ID43928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88423674..88423831hg38UCSC Ensembl
chr14:88890018..88890175hg19UCSC Ensembl
chr14:87959771..87959928hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38158
hg19158
hg18158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572485
SamplesHuRef
Known GenesSPATA7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994338
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