A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758041



Internal ID9633500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30676916..30848542hg38UCSC Ensembl
Innerchr6:30644693..30816319hg19UCSC Ensembl
Innerchr6:30752672..30924298hg18UCSC Ensembl
Innerchr6:30752672..30924298hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38171627
hg19171627
hg18171627
hg17171627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759413
Supporting Variantsessv15379, essv13511
SamplesNA19203, NA19160
Known GenesFLOT1, IER3, MDC1, NRM, PPP1R18, TUBB
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)esv2758041
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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