A curated catalogue of human genomic structural variation




Variant Details

Variant: esv14144



Internal ID11031378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:268157..270942hg38UCSC Ensembl
InnerchrX:184824..187609hg19UCSC Ensembl
InnerchrX:124824..127609hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg382786
hg192786
hg182786
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27600
Supporting Variantsessv82267, essv48213, essv84015, essv53237, essv43142, essv69843, essv61116, essv66209, essv70991, essv42459, essv62518, essv72444, essv75528, essv55385, essv60586, essv49952, essv51441, essv45693, essv32855, essv37054, essv59254
SamplesNA18508, NA12414, NA11931, NA19190, NA18916, NA12044, NA19114, NA11894, NA12239, NA15510, NA19099, NA19225, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA18505, NA19129
Known Genes
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)esv14144
Frequency
Sample Size40
Observed Gain9
Observed Loss12
Observed Complex0
Frequencyn/a


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