A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12483



Internal ID9609762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30972532..31320207hg38UCSC Ensembl
Innerchr12:31125467..31473141hg19UCSC Ensembl
Innerchr12:31016734..31364408hg18UCSC Ensembl
Innerchr12:31016734..31364408hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38347676
hg19347675
hg18347675
hg17347675
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758303
Supporting Variants
SamplesNA19207
Known GenesDDX11, DDX11-AS1, FAM60A, TSPAN11
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)essv12483
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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