A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19650



Internal ID11036884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103561157..103618784hg38UCSC Ensembl
Innerchr1:104103779..104161406hg19UCSC Ensembl
Innerchr1:103905302..103962929hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3857628
hg1957628
hg1857628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23292
Supporting Variantsessv61690, essv36135, essv44317, essv36677, essv49825
SamplesNA12489, NA18907, NA11894, NA12239, NA18517
Known GenesACTG1P4, 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)esv19650
Frequency
Sample Size40
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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