A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011240



Internal ID6723328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71005008..71073180hg38UCSC Ensembl
Innerchr5:70300835..70369007hg19UCSC Ensembl
Innerchr5:70336591..70404763hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3868173
hg1968173
hg1868173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3586726
SamplesHuRef
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011240
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer