A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759243



Internal ID9981388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:30127162..30285822hg38UCSC Ensembl
Innerchr4:30128784..30287444hg19UCSC Ensembl
Innerchr4:29737882..29896542hg18UCSC Ensembl
Innerchr4:29805053..29963713hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38158661
hg19158661
hg18158661
hg17158661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757928
SamplesNA10856
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)esv2759243
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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