A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19441



Internal ID9956857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34784293..34954921hg38UCSC Ensembl
Innerchr4:34785915..34956543hg19UCSC Ensembl
Innerchr4:34462310..34632938hg18UCSC Ensembl
Innerchr4:34608481..34779109hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38170629
hg19170629
hg18170629
hg17170629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757932
Supporting Variants
SamplesNA11840
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)essv19441
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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