A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2517



Internal ID9972289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186891945..187066496hg38UCSC Ensembl
Innerchr3:186609734..186784284hg19UCSC Ensembl
Innerchr3:188092428..188266978hg18UCSC Ensembl
Innerchr3:188092436..188266986hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38174552
hg19174551
hg18174551
hg17174551
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757909
Supporting Variants
SamplesNA19003
Known GenesST6GAL1
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)essv2517
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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