A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19225



Internal ID9617253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32553543hg38UCSC Ensembl
Innerchr6:32371753..32521320hg19UCSC Ensembl
Innerchr6:32479731..32629298hg18UCSC Ensembl
Innerchr6:32479731..32629298hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38149568
hg19149568
hg18149568
hg17149568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA10838
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)essv19225
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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