A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584647



Internal ID7056030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79639947..79648707hg38UCSC Ensembl
chr14:80106290..80115050hg19UCSC Ensembl
chr14:79176043..79184803hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg388761
hg198761
hg188761
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989597
Supporting Variants
SamplesHuRef
Known GenesNRXN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584647
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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