A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586726



Internal ID6711422
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011240
Supporting Variants
SamplesHuRef
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586726
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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