A curated catalogue of human genomic structural variation




Variant Details

Variant: esv28122



Internal ID11045355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161439273..161676968hg38UCSC Ensembl
Innerchr1:161409063..161646758hg19UCSC Ensembl
Innerchr1:159675687..159913382hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38237696
hg19237696
hg18237696
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv21308, esv18665, esv12861, esv15123
SamplesNA18861, NA12004, NA19190, NA18916, NA11993, NA12489, NA07045, NA19114, NA11894, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA07037, NA12749, NA19129, NA12776
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)esv28122
Frequency
Sample Size40
Observed Gain7
Observed Loss18
Observed Complex0
Frequencyn/a


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