A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759111



Internal ID9981256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:204675109..204976451hg38UCSC Ensembl
Innerchr2:205539832..205841174hg19UCSC Ensembl
Innerchr2:205248077..205549419hg18UCSC Ensembl
Innerchr2:205365338..205666680hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38301343
hg19301343
hg18301343
hg17301343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757846
SamplesNA18981
Known GenesPARD3B
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)esv2759111
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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