A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12972



Internal ID9610305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32590106hg38UCSC Ensembl
Innerchr6:32371753..32557883hg19UCSC Ensembl
Innerchr6:32479731..32665861hg18UCSC Ensembl
Innerchr6:32479731..32665861hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38186131
hg19186131
hg18186131
hg17186131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA18859
Known GenesBTNL2, HLA-DRA, HLA-DRB1, 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)essv12972
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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