A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758051



Internal ID9980128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44912054..45089021hg38UCSC Ensembl
Innerchr6:44879791..45056758hg19UCSC Ensembl
Innerchr6:44987769..45164736hg18UCSC Ensembl
Innerchr6:44987769..45164736hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38176968
hg19176968
hg18176968
hg17176968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759423
Supporting Variantsessv5275
SamplesNA18624
Known GenesSUPT3H
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)esv2758051
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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