A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6923



Internal ID9965364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49486925..49658100hg38UCSC Ensembl
Innerchr4:49488942..49660117hg19UCSC Ensembl
Innerchr4:49183699..49354874hg18UCSC Ensembl
Innerchr4:49329870..49501045hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38171176
hg19171176
hg18171176
hg17171176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757934
Supporting Variants
SamplesNA18605
Known Genes
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)essv6923
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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