A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19240



Internal ID9617270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144274482..145415526hg19UCSC Ensembl
Innerchr1:142985839..144126883hg18UCSC Ensembl
Innerchr1:141851837..142904570hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg191141045
hg181141045
hg171052734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA10838
Known GenesHFE2, LINC00623, LOC100288142, LOC101929780, LOC653513, LOC728875, NBPF10, NBPF12, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, PFN1P2, PPIAL4A, PPIAL4B, PPIAL4C, 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)essv19240
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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