A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21806



Internal ID9956823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:146041418..148982242hg38UCSC Ensembl
Innerchr1:144902232..145393578hg19UCSC Ensembl
Innerchr1:143613589..144104935hg18UCSC Ensembl
Innerchr1:142391276..142882622hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382940825
hg19491347
hg18491347
hg17491347
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA11839
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
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)essv21806
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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