A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586483



Internal ID6711179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70409759..70471776hg38UCSC Ensembl
Innerchr5:69705586..69767603hg19UCSC Ensembl
Innerchr5:69741342..69803359hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3862018
hg1962018
hg1862018
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999813
Supporting Variants
SamplesHuRef
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586483
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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