A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10083



Internal ID9607096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12235048..12622041hg38UCSC Ensembl
Innerchr9:12235048..12622041hg19UCSC Ensembl
Innerchr9:12225048..12612041hg18UCSC Ensembl
Innerchr9:12225048..12612041hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38386994
hg19386994
hg18386994
hg17386994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758181, esv2758182
Supporting Variants
SamplesNA19130
Known Genes
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)essv10083
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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