A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19098



Internal ID11036332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:104812909..104815002hg38UCSC Ensembl
Innerchr6:105260784..105262877hg19UCSC Ensembl
Innerchr6:105367477..105369570hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg382094
hg192094
hg182094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27932
Supporting Variantsessv80319, essv46677, essv36953, essv73280, essv45046, essv69284, essv60902, essv32767, essv33882, essv71407, essv74762, essv67239, essv54498, essv53675, essv79782, essv49430, essv40800, essv52424, essv76811
SamplesNA18502, NA11995, NA18508, NA12004, NA18916, NA12156, NA12044, NA12828, NA12489, NA12878, NA11894, NA19099, NA18523, NA19147, NA18517, NA12749, NA19129, NA12006, NA18511
Known GenesHACE1
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)esv19098
Frequency
Sample Size40
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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