A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13889



Internal ID9611323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152500363..152925677hg38UCSC Ensembl
Innerchr1:152472839..152898153hg19UCSC Ensembl
Innerchr1:150739463..151164777hg18UCSC Ensembl
Innerchr1:149285912..149711226hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38425315
hg19425315
hg18425315
hg17425315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757755
Supporting Variants
SamplesNA18854
Known GenesC1orf68, CRCT1, IVL, KPRP, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, SMCP
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)essv13889
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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