A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22655



Internal ID9621064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152500363..152614637hg38UCSC Ensembl
Innerchr1:152472839..152587113hg19UCSC Ensembl
Innerchr1:150739463..150853737hg18UCSC Ensembl
Innerchr1:149285912..149400186hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38114275
hg19114275
hg18114275
hg17114275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757755
Supporting Variants
SamplesNA12752
Known GenesCRCT1, LCE3B, LCE3C, LCE3D, LCE3E, 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)essv22655
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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