A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1158



Internal ID9608758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241480540..241562243hg38UCSC Ensembl
Innerchr2:242419955..242501658hg19UCSC Ensembl
Innerchr2:242068628..242150331hg18UCSC Ensembl
Innerchr2:242139945..242221648hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3881704
hg1981704
hg1881704
hg1781704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757851
Supporting Variants
SamplesNA18951
Known GenesBOK, BOK-AS1, FARP2, STK25
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)essv1158
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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