A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9761992



Internal ID18389552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1649802..1649856hg38UCSC Ensembl
chr4:1651529..1651583hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3563245
Supporting Variants
Samples
Known GenesFAM53A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9761992
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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