A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8953



Internal ID9631032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:146019487..148982242hg38UCSC Ensembl
Innerchr1:144902232..145415526hg19UCSC Ensembl
Innerchr1:143613589..144126883hg18UCSC Ensembl
Innerchr1:142391276..142904570hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382962756
hg19513295
hg18513295
hg17513295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA19200
Known GenesHFE2, LOC100288142, 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)essv8953
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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