A curated catalogue of human genomic structural variation




Variant Details

Variant: esv11322



Internal ID11028556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103676712..103763935hg38UCSC Ensembl
Innerchr1:104219334..104306557hg19UCSC Ensembl
Innerchr1:104020857..104108080hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3887224
hg1987224
hg1887224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23292
Supporting Variantsessv77230, essv68741, essv50940, essv60604, essv53894
SamplesNA18508, NA11931, NA18523, NA18858, NA18511
Known GenesAMY1A, AMY1B, AMY1C
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)esv11322
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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