A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12349



Internal ID9609613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32737657hg38UCSC Ensembl
Innerchr6:32371753..32705434hg19UCSC Ensembl
Innerchr6:32479731..32813412hg18UCSC Ensembl
Innerchr6:32479731..32813412hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38333682
hg19333682
hg18333682
hg17333682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA19138
Known GenesBTNL2, HLA-DQA1, HLA-DQB1, 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)essv12349
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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