A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559721



Internal ID18760797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79187583..79187682hg38UCSC Ensembl
chr14:79653926..79654025hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134e215
Supporting Variantsessv9758468
Samples
Known GenesNRXN3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559721
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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