A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14178



Internal ID9611645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21987900..22206547hg38UCSC Ensembl
Innerchr12:22140834..22359481hg19UCSC Ensembl
Innerchr12:22032101..22250748hg18UCSC Ensembl
Innerchr12:22032101..22250748hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38218648
hg19218648
hg18218648
hg17218648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758298, esv2758299
Supporting Variants
SamplesNA19140
Known GenesCMAS, ST8SIA1
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)essv14178
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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