A curated catalogue of human genomic structural variation




Variant Details

Variant: essv123



Internal ID9609558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152500363..152717597hg38UCSC Ensembl
Innerchr1:152472839..152690073hg19UCSC Ensembl
Innerchr1:150739463..150956697hg18UCSC Ensembl
Innerchr1:149285912..149503146hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38217235
hg19217235
hg18217235
hg17217235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757755
Supporting Variants
SamplesNA18968
Known GenesCRCT1, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A
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)essv123
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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