A curated catalogue of human genomic structural variation




Variant Details

Variant: essv361



Internal ID9625096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37581026..37911796hg38UCSC Ensembl
Innerchr2:37808169..38138939hg19UCSC Ensembl
Innerchr2:37661673..37992443hg18UCSC Ensembl
Innerchr2:37719820..38050590hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38330771
hg19330771
hg18330771
hg17330771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757793
Supporting Variants
SamplesNA18971
Known GenesCDC42EP3
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)essv361
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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