A curated catalogue of human genomic structural variation




Variant Details

Variant: essv38306



Internal ID11373225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46379212..46577946hg38UCSC Ensembl
Innerchr10:46971671..47170550hg19UCSC Ensembl
Innerchr10:46391677..46590556hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38198735
hg19198880
hg18198880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv20121
Supporting Variants
SamplesNA19257
Known GenesANXA8, GPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R
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)essv38306
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