A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3563246



Internal ID18417636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1672161..1672216hg38UCSC Ensembl
chr4:1673888..1673943hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761993
Samples
Known GenesFAM53A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3563246
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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