A curated catalogue of human genomic structural variation




Variant Details

Variant: esv27955



Internal ID11045188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34368319..34583150hg38UCSC Ensembl
Innerchr15:34660520..34875351hg19UCSC Ensembl
Innerchr15:32447812..32662643hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38214832
hg19214832
hg18214832
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv14160, esv18849, esv9992, esv10163, esv16717
SamplesNA12489, NA18861, NA07037, NA18523, NA19114, NA11931, NA12828, NA18517, NA12776, NA19257, NA19108, NA15510, NA18505, NA12044, NA12287, NA19147, NA12414, NA18508, NA12004, NA11894, NA11995, NA18916, NA19190, NA12006, NA07045, NA12239, NA19129, NA06985, NA18502, NA18858, NA18907, NA18909, NA12749, NA12156, NA19099, NA12878, NA19225, NA11993, NA19240
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)esv27955
Frequency
Sample Size40
Observed Gain39
Observed Loss1
Observed Complex0
Frequencyn/a


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