A curated catalogue of human genomic structural variation




Variant Details

Variant: esv22025



Internal ID11039258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3815989..3939014hg38UCSC Ensembl
InnerchrX:3734030..3857055hg19UCSC Ensembl
InnerchrX:3744030..3867055hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38123026
hg19123026
hg18123026
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv17721, esv19904, esv20006, esv12550, esv18031, esv20609, esv18938, esv13421
SamplesNA11995, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12156, NA12828, NA11993, NA12878, NA07045, NA11894, NA15510, NA19099, NA18523, NA18909, NA19108, NA19147, NA18517, NA19240, NA12749, NA18505, 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)esv22025
Frequency
Sample Size40
Observed Gain19
Observed Loss11
Observed Complex0
Frequencyn/a


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