A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23962



Internal ID9960649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100894543..101057653hg38UCSC Ensembl
Innerchr3:100613387..100776497hg19UCSC Ensembl
Innerchr3:102096077..102259187hg18UCSC Ensembl
Innerchr3:102096077..102259187hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38163111
hg19163111
hg18163111
hg17163111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757881
Supporting Variants
SamplesNA12814
Known GenesABI3BP
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)essv23962
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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