A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24861



Internal ID9954106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:22591267..22897147hg38UCSC Ensembl
Innerchr2:22814139..23120019hg19UCSC Ensembl
Innerchr2:22667644..22973524hg18UCSC Ensembl
Innerchr2:22725791..23031671hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38305881
hg19305881
hg18305881
hg17305881
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757787
Supporting Variants
SamplesNA07000
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)essv24861
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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