A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2285



Internal ID9621280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144274482..144401744hg19UCSC Ensembl
Innerchr1:142985839..143113101hg18UCSC Ensembl
Innerchr1:141851837..141979099hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg19127263
hg18127263
hg17127263
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757751
Supporting Variants
SamplesNA18966
Known GenesLINC00623, LOC100288142, LOC728875, PPIAL4A, PPIAL4B, PPIAL4C
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)essv2285
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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