A curated catalogue of human genomic structural variation




Variant Details

Variant: esv20377



Internal ID11037611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103594092..103774396hg38UCSC Ensembl
Innerchr1:104136714..104317018hg19UCSC Ensembl
Innerchr1:103938237..104118541hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38180305
hg19180305
hg18180305
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv23292
Supporting Variantsessv72285, essv70726, essv34082, essv52593, essv42608, essv55351, essv57078, essv48469, essv32300, essv76439, essv39491, essv46291, essv38576, essv66456
SamplesNA18502, NA12414, NA18916, NA12287, NA12828, NA11993, NA19099, NA19257, NA19225, NA18909, NA19147, NA07037, NA19129, NA12006
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
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)esv20377
Frequency
Sample Size40
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


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