A curated catalogue of human genomic structural variation




Variant Details

Variant: essv408



Internal ID9625618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222122625..222284971hg38UCSC Ensembl
Innerchr1:222295967..222458313hg19UCSC Ensembl
Innerchr1:220362590..220524936hg18UCSC Ensembl
Innerchr1:218684362..218846708hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38162347
hg19162347
hg18162347
hg17162347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757771
Supporting Variants
SamplesNA18971
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)essv408
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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