A curated catalogue of human genomic structural variation




Variant Details

Variant: esv16697



Internal ID11033931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70409759..70484826hg38UCSC Ensembl
Innerchr5:69705586..69780653hg19UCSC Ensembl
Innerchr5:69741342..69816409hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3875068
hg1975068
hg1875068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22113
Supporting Variantsessv38093, essv35802, essv70743, essv74674, essv75798, essv77379, essv77848, essv65690, essv47558, essv44577, essv36650, essv80246
SamplesNA11995, NA18861, NA12414, NA12004, NA18916, NA12489, NA18907, NA11894, NA19257, NA06985, NA19240, NA18511
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4, SMA5
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv16697
Frequency
Sample Size40
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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