A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551821



Internal ID18752897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78693296..78698683hg38UCSC Ensembl
Outerchr14:78692158..78699657hg38UCSC Ensembl
Innerchr14:79159639..79165026hg19UCSC Ensembl
Outerchr14:79158501..79166000hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750568
Samples
Known GenesNRXN3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551821
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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