A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9452



Internal ID9631587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37462893..37759627hg38UCSC Ensembl
Innerchr12:37856695..38153429hg19UCSC Ensembl
Innerchr12:36142962..36439696hg18UCSC Ensembl
Innerchr12:36142962..36439696hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38296735
hg19296735
hg18296735
hg17296735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758305
Supporting Variants
SamplesNA19208
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)essv9452
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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