A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7323890



Internal ID10255486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88912214..88912266hg38UCSC Ensembl
chr4:89833365..89833417hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3054323
Supporting Variants
SamplesHuRef
Known GenesFAM13A
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7323890
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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