A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21933



Internal ID11039166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:1197001..1403094hg38UCSC Ensembl
InnerchrX:1314754..1521987hg19UCSC Ensembl
InnerchrX:1274754..1481987hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38206094
hg19207234
hg18207234
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv10387, esv12119, esv16534, esv16136, esv17467, esv10139, esv11725, esv13817, esv14132
SamplesNA11995, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12044, NA11993, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA06985, NA18523, NA18858, NA18909, NA19108, NA18517, NA19129, NA12006, NA18511, NA12776
Known GenesASMTL-AS1, CRLF2, CSF2RA, IL3RA, MIR3690, MIR3690-2, SLC25A6
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)esv21933
Frequency
Sample Size40
Observed Gain18
Observed Loss14
Observed Complex0
Frequencyn/a


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