A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997182



Internal ID6733124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:66713875..66716592hg38UCSC Ensembl
Outerchr14:67180593..67183310hg19UCSC Ensembl
Outerchr14:66250346..66253063hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382718
hg192718
hg182718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564015
SamplesHuRef
Known GenesGPHN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997182
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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