A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14473



Internal ID9977127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145951733..148982242hg38UCSC Ensembl
Innerchr1:144902232..145483353hg19UCSC Ensembl
Innerchr1:143613589..144194710hg18UCSC Ensembl
Innerchr1:142391276..142972397hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg383030510
hg19581122
hg18581122
hg17581122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA19201
Known GenesANKRD34A, HFE2, LIX1L, LOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL, PDE4DIP, POLR3GL, SEC22B, TXNIP
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)essv14473
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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