A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758193



Internal ID9980270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:85509239..85663522hg38UCSC Ensembl
Innerchr9:88124154..88278437hg19UCSC Ensembl
Innerchr9:87313974..87468257hg18UCSC Ensembl
Innerchr9:85353708..85507991hg17UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38154284
hg19154284
hg18154284
hg17154284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759702
Supporting Variantsessv11447
SamplesNA18857
Known GenesAGTPBP1
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)esv2758193
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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