A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23236



Internal ID9954287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:105037611..105296477hg38UCSC Ensembl
Innerchr5:104373312..104632178hg19UCSC Ensembl
Innerchr5:104401211..104660077hg18UCSC Ensembl
Innerchr5:104401211..104660077hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38258867
hg19258867
hg18258867
hg17258867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758009
Supporting Variants
SamplesNA07029
Known GenesRAB9BP1
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)essv23236
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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