A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16251



Internal ID9613949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197556879..197770997hg38UCSC Ensembl
Innerchr3:197283750..197497868hg19UCSC Ensembl
Innerchr3:198768147..198982265hg18UCSC Ensembl
Innerchr3:198772060..198986178hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38214119
hg19214119
hg18214119
hg17214119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757914
Supporting Variants
SamplesNA19161
Known GenesBDH1, FYTTD1, KIAA0226, LOC220729, MIR922
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)essv16251
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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