A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758500



Internal ID9980577
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 StatusM
Merged Variantsesv2758762
Supporting Variantsessv2976, essv497, essv833
SamplesNA18973, NA18981, NA18952
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)esv2758500
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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