A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006050



Internal ID7071144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32480848..32489148hg38UCSC Ensembl
Outerchr14:32950054..32958354hg19UCSC Ensembl
Outerchr14:32019805..32028105hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg388301
hg198301
hg188301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564839
SamplesHuRef
Known GenesAKAP6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006050
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