A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566699



Internal ID18421089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138143607..138143673hg38UCSC Ensembl
chr5:137479296..137479362hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765446
Samples
Known GenesBRD8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566699
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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