A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009388



Internal ID6721493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69554670..69617610hg38UCSC Ensembl
Innerchr5:68850497..68913437hg19UCSC Ensembl
Innerchr5:68886253..68949193hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3862941
hg1962941
hg1862941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586467
SamplesHuRef
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, OCLN, SMA4
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009388
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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