A curated catalogue of human genomic structural variation




Variant Details

Variant: esv21229



Internal ID11385148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7330225..7343109hg38UCSC Ensembl
Innerchr8:7187747..7200631hg19UCSC Ensembl
Innerchr8:7175157..7188041hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812885
hg1912885
hg1812885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv21583
Supporting Variantsessv64145, essv60467, essv74193, essv77696, essv71302, essv53662, essv80589, essv65481, essv55292, essv41036, essv37364, essv44706, essv51369, essv79592, essv39227, essv51931, essv82835, essv55756, essv58179, essv76214, essv69498, essv45301, essv49093, essv82226
SamplesNA11995, NA18508, NA12414, NA11931, NA19190, NA18916, NA12287, NA12156, NA12044, NA12489, NA12878, NA07045, NA19114, NA11894, NA19099, NA06985, NA18523, NA19108, NA19240, NA07037, NA12749, NA19129, NA12006, NA12776
Known GenesFAM66B, USP17L1P, USP17L4
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)esv21229
Frequency
Sample Size40
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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