A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757908



Internal ID9633367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186619345..186849537hg38UCSC Ensembl
Innerchr3:186337134..186567326hg19UCSC Ensembl
Innerchr3:187819828..188050020hg18UCSC Ensembl
Innerchr3:187819836..188050028hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38230193
hg19230193
hg18230193
hg17230193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759206
Supporting Variantsessv19961, essv20888
SamplesNA12801, NA12813
Known GenesADIPOQ, AHSG, EIF4A2, FETUB, HRG, KNG1, MIR1248, RFC4, SNORA4, SNORA63, SNORA81, SNORD2
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)esv2757908
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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