A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19519



Internal ID9617579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9454094..9762549hg38UCSC Ensembl
Innerchr4:9455820..9764173hg19UCSC Ensembl
Innerchr4:9064918..9373271hg18UCSC Ensembl
Innerchr4:9132089..9440442hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38308456
hg19308354
hg18308354
hg17308354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757920
Supporting Variants
SamplesNA12864
Known GenesLOC650293, MIR548I2
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)essv19519
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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