A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010266



Internal ID7074331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:102136559..102143804hg38UCSC Ensembl
Outerchr13:102788909..102796154hg19UCSC Ensembl
Outerchr13:101586910..101594155hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg387246
hg197246
hg187246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564428
SamplesHuRef
Known GenesFGF14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010266
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