A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12297



Internal ID9609555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37569511..37911796hg38UCSC Ensembl
Innerchr2:37796654..38138939hg19UCSC Ensembl
Innerchr2:37650158..37992443hg18UCSC Ensembl
Innerchr2:37708305..38050590hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38342286
hg19342286
hg18342286
hg17342286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757793
Supporting Variants
SamplesNA19138
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)essv12297
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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