A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22645



Internal ID11039878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57917817..57948060hg38UCSC Ensembl
Innerchr6:58244095..58274338hg19UCSC Ensembl
Innerchr6:58352054..58382297hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3830244
hg1930244
hg1830244
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv13110, esv18972
SamplesNA07037, NA11931, NA18505, NA12044, NA12287, NA18508, NA12004, NA06985, NA12878
Known GenesGUSBP4
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)esv22645
Frequency
Sample Size40
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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