A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23292



Internal ID11040525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103561064..103774396hg38UCSC Ensembl
Innerchr1:104103686..104317018hg19UCSC Ensembl
Innerchr1:103905209..104118541hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38213333
hg19213333
hg18213333
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv16449, esv11430, esv11322, esv18119, esv16570, esv11093, esv10004, esv21252, esv14615, esv20377, esv16038, esv16702, esv19650, esv11903, esv12324
SamplesNA12489, NA07037, NA18523, NA18511, NA11931, NA12828, NA18517, NA19257, NA15510, NA12287, NA19147, NA12414, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA19099, NA19225, NA11993
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
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)esv23292
Frequency
Sample Size40
Observed Gain21
Observed Loss11
Observed Complex0
Frequencyn/a


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