A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758175



Internal ID9633634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:524413..853033hg38UCSC Ensembl
Innerchr9:524413..853033hg19UCSC Ensembl
Innerchr9:514413..843033hg18UCSC Ensembl
Innerchr9:514413..843033hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38328621
hg19328621
hg18328621
hg17328621
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759655
Supporting Variantsessv9111, essv12968
SamplesNA18860, NA18859
Known GenesDMRT1, KANK1
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)esv2758175
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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