A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999813



Internal ID6735737
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586483
SamplesHuRef
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999813
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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