A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29362



Internal ID11046595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212319228..212327278hg38UCSC Ensembl
Innerchr2:213183953..213192002hg19UCSC Ensembl
Innerchr2:212892198..212900247hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388051
hg198050
hg188050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13394
SamplesNA12776
Known GenesERBB4
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)esv29362
Frequency
Sample Size40
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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