A curated catalogue of human genomic structural variation




Variant Details

Variant: essv378



Internal ID9625284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43530960..43716382hg38UCSC Ensembl
Innerchr15:43823158..44008580hg19UCSC Ensembl
Innerchr15:41610450..41795872hg18UCSC Ensembl
Innerchr15:41610450..41795872hg17UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38185423
hg19185423
hg18185423
hg17185423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758379
Supporting Variants
SamplesNA18971
Known GenesCATSPER2, CKMT1A, CKMT1B, MAP1A, PPIP5K1, RNU6-28P, STRC
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv378
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer