A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757922



Internal ID9979999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12495551..12657766hg38UCSC Ensembl
Innerchr4:12497175..12659390hg19UCSC Ensembl
Innerchr4:12106273..12268488hg18UCSC Ensembl
Innerchr4:12173444..12335659hg17UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38162216
hg19162216
hg18162216
hg17162216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759225
Supporting Variantsessv23957
SamplesNA12814
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)esv2757922
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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