A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758298



Internal ID9633757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21987900..22186365hg38UCSC Ensembl
Innerchr12:22140834..22339299hg19UCSC Ensembl
Innerchr12:22032101..22230566hg18UCSC Ensembl
Innerchr12:22032101..22230566hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38198466
hg19198466
hg18198466
hg17198466
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759883
Supporting Variantsessv14178, essv10260
SamplesNA19140, NA18506
Known GenesCMAS
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)esv2758298
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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