A curated catalogue of human genomic structural variation




Variant Details

Variant: essv497



Internal ID9626606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40785722..41040163hg38UCSC Ensembl
Innerchr19:41291627..41546068hg19UCSC Ensembl
Innerchr19:45983467..46237908hg18UCSC Ensembl
Innerchr19:45983467..46237908hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38254442
hg19254442
hg18254442
hg17254442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758500
Supporting Variants
SamplesNA18952
Known GenesCYP2A6, CYP2A7, CYP2B6, CYP2B7P, CYP2G1P, EGLN2, MIA-RAB4B, RAB4B, RAB4B-EGLN2
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)essv497
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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