A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22339



Internal ID9620713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83021726..83737638hg38UCSC Ensembl
Innerchr2:83248850..83964762hg19UCSC Ensembl
Innerchr2:83102361..83818273hg18UCSC Ensembl
Innerchr2:83160508..83876420hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38715913
hg19715913
hg18715913
hg17715913
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757813
Supporting Variants
SamplesNA06985
Known Genes
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)essv22339
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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