A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23659



Internal ID9956335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:50033753..50149727hg38UCSC Ensembl
Innerchr19:50537010..50652984hg19UCSC Ensembl
Innerchr19:55228822..55344796hg18UCSC Ensembl
Innerchr19:55228822..55344796hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38115975
hg19115975
hg18115975
hg17115975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758503
Supporting Variants
SamplesNA10863
Known GenesFLJ26850, SNAR-A10, SNAR-A11, SNAR-A14, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-D, ZNF473
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)essv23659
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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