A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3046033



Internal ID10719013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1092989..1093039hg38UCSC Ensembl
chr4:1086777..1086827hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7315600
SamplesHuRef
Known GenesRNF212
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3046033
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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