A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12550



Internal ID11029784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3815989..3938649hg38UCSC Ensembl
InnerchrX:3734030..3856690hg19UCSC Ensembl
InnerchrX:3744030..3866690hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38122661
hg19122661
hg18122661
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv22025
Supporting Variantsessv44025, essv75675, essv39303, essv40464, essv52335, essv77407, essv67063, essv36788, essv56740, essv74830, essv60170, essv49460, essv70374, essv32677, essv79217, essv80669, essv59447, essv62804, essv73885, essv64602, essv54885, essv83925, essv51084
SamplesNA11995, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12828, NA12878, NA07045, NA11894, NA15510, NA19099, NA18523, NA18909, NA19108, NA19147, NA18517, NA12749, NA12006, NA18511, NA12776
Known GenesLOC389906
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)esv12550
Frequency
Sample Size40
Observed Gain15
Observed Loss8
Observed Complex0
Frequencyn/a


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