A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759912



Internal ID9982057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91753137..91916900hg38UCSC Ensembl
Innerchr12:92146914..92310676hg19UCSC Ensembl
Innerchr12:90671045..90834807hg18UCSC Ensembl
Innerchr12:90649382..90813144hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38163764
hg19163763
hg18163763
hg17163763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758316
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)esv2759912
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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