A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19830



Internal ID11037064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196741188..196856152hg38UCSC Ensembl
Innerchr1:196710318..196825282hg19UCSC Ensembl
Innerchr1:194976941..195091905hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38114965
hg19114965
hg18114965
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26552
Supporting Variantsessv61730, essv64616, essv54629, essv50731, essv76448, essv34312, essv64977, essv32428, essv58182, essv47813, essv40889, essv81276, essv81000, essv36931, essv49444, essv39807, essv77172, essv70901, essv55960, essv44882, essv62255, essv56904, essv78423, essv74925
SamplesNA18502, NA11995, NA18861, NA12414, NA11931, NA12004, NA18916, NA12287, NA11993, NA12489, NA12878, NA07045, NA19114, NA11894, NA12239, NA15510, NA19099, NA06985, NA19108, NA19147, NA18517, NA19240, NA18511, NA12776
Known GenesCFH, CFHR1, CFHR3
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)esv19830
Frequency
Sample Size40
Observed Gain14
Observed Loss10
Observed Complex0
Frequencyn/a


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