A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551798



Internal ID18752874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76808435..76808527hg38UCSC Ensembl
chr14:77274778..77274870hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9750545
Samples
Known GenesANGEL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551798
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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