A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564839



Internal ID7035939
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006050
Supporting Variants
SamplesHuRef
Known GenesAKAP6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564839
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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