A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28935



Internal ID4359836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155210698..155251452hg38UCSC Ensembl
Innerchr1:155180489..155221243hg19UCSC Ensembl
Innerchr1:153447113..153487867hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3840755
hg1940755
hg1840755
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13606
SamplesNA19190, NA19129
Known GenesFAM189B, GBA, GBAP1, MTX1
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)esv28935
Frequency
Sample Size40
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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