A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737



Internal ID9628570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36510516..36645987hg38UCSC Ensembl
Innerchr22:36906563..37042034hg19UCSC Ensembl
Innerchr22:35236509..35371980hg18UCSC Ensembl
Innerchr22:35231063..35366534hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38135472
hg19135472
hg18135472
hg17135472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758545
Supporting Variants
SamplesNA18562
Known GenesCACNG2, EIF3D
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)essv6737
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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