A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993981



Internal ID7062776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100556519..100565863hg38UCSC Ensembl
Outerchr14:101022856..101032200hg19UCSC Ensembl
Outerchr14:100092609..100101953hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg389345
hg199345
hg189345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565763
SamplesHuRef
Known GenesBEGAIN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993981
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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