A curated catalogue of human genomic structural variation




Variant Details

Variant: essv24896



Internal ID9623553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32574849hg38UCSC Ensembl
Innerchr6:32371753..32542626hg19UCSC Ensembl
Innerchr6:32479731..32650604hg18UCSC Ensembl
Innerchr6:32479731..32650604hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38170874
hg19170874
hg18170874
hg17170874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA06994
Known GenesBTNL2, HLA-DRA, HLA-DRB5, HLA-DRB6
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)essv24896
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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