A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551819



Internal ID18752895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:78361901..78362233hg38UCSC Ensembl
Outerchr14:78361829..78362286hg38UCSC Ensembl
Innerchr14:78828244..78828576hg19UCSC Ensembl
Outerchr14:78828172..78828629hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750566
Samples
Known GenesNRXN3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551819
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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