A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18634



Internal ID9616596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32535132..32735663hg38UCSC Ensembl
Innerchr6:32502909..32703440hg19UCSC Ensembl
Innerchr6:32610887..32811418hg18UCSC Ensembl
Innerchr6:32610887..32811418hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38200532
hg19200532
hg18200532
hg17200532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA12234
Known GenesHLA-DQA1, HLA-DQB1, HLA-DRB1, 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)essv18634
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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