A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21847



Internal ID9956798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104970872..105296477hg38UCSC Ensembl
Innerchr5:104306573..104632178hg19UCSC Ensembl
Innerchr5:104334472..104660077hg18UCSC Ensembl
Innerchr5:104334472..104660077hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38325606
hg19325606
hg18325606
hg17325606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758009
Supporting Variants
SamplesNA11839
Known GenesRAB9BP1
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)essv21847
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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