A curated catalogue of human genomic structural variation




Variant Details

Variant: esv24815



Internal ID11388734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33086008..34015516hg38UCSC Ensembl
Innerchr16:33097329..33817983hg19UCSC Ensembl
Innerchr16:33004830..33725484hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38929509
hg19720655
hg18720655
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv19426, esv10966, esv9755, esv20560, esv20156, esv20476, esv10695, esv14625, esv18664, esv19860, esv19255, esv14224, esv10058, esv16670, esv14622, esv15707, esv12762, esv14906, esv11927, esv10866, esv16317, esv11581, esv11588, esv16299
SamplesNA18502, NA11995, NA18861, NA18508, NA12414, NA11931, NA12004, NA19190, NA18916, NA12287, NA12044, NA11993, NA12489, NA12878, NA18907, NA19114, NA11894, NA12239, NA15510, NA19099, NA19257, NA19225, NA06985, NA18523, NA18858, NA18909, NA19108, NA19147, NA18517, NA19240, NA07037, NA12749, NA19129, NA12776
Known GenesLOC390705, RNU6-76P, TP53TG3, TP53TG3B, TP53TG3C
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)esv24815
Frequency
Sample Size40
Observed Gain32
Observed Loss7
Observed Complex0
Frequencyn/a


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