A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8086



Internal ID9630069
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 gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA19206
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)essv8086
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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