A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566810



Internal ID18767886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150366651..150366919hg38UCSC Ensembl
Outerchr5:150366602..150366992hg38UCSC Ensembl
Innerchr5:149746214..149746482hg19UCSC Ensembl
Outerchr5:149746165..149746555hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765557
Samples
Known GenesTCOF1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566810
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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