A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4226



Internal ID9625781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231672114..231968956hg38UCSC Ensembl
Innerchr2:232536825..232833666hg19UCSC Ensembl
Innerchr2:232245069..232541910hg18UCSC Ensembl
Innerchr2:232362330..232659171hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38296843
hg19296842
hg18296842
hg17296842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757849
Supporting Variants
SamplesNA18603
Known GenesCOPS7B, DIS3L2, MIR1244-1, MIR1244-2, MIR1244-3, MIR1471, NPPC, PDE6D, PTMA
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)essv4226
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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