A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21045



Internal ID9619276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141128705..141319055hg38UCSC Ensembl
Innerchr5:140508287..140698622hg19UCSC Ensembl
Innerchr5:140488471..140678806hg18UCSC Ensembl
Innerchr5:140488471..140678806hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38190351
hg19190336
hg18190336
hg17190336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758019
Supporting Variants
SamplesNA06991
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, SLC25A2, TAF7
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)essv21045
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