A curated catalogue of human genomic structural variation




Variant Details

Variant: esv19659



Internal ID11036893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88501132..88501767hg38UCSC Ensembl
Innerchr16:88567540..88568175hg19UCSC Ensembl
Innerchr16:87095041..87095676hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv26368
Supporting Variantsessv77767, essv75152, essv65531, essv38357, essv53403, essv84060, essv80144, essv71975, essv33449, essv42750, essv82169
SamplesNA11995, NA18508, NA12004, NA19190, NA19114, NA19257, NA19225, NA06985, NA18909, NA19147, NA19240
Known GenesZFPM1
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)esv19659
Frequency
Sample Size40
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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