A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19020



Internal ID9617026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32452733..32590106hg38UCSC Ensembl
Innerchr6:32420510..32557883hg19UCSC Ensembl
Innerchr6:32528488..32665861hg18UCSC Ensembl
Innerchr6:32528488..32665861hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38137374
hg19137374
hg18137374
hg17137374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758044
Supporting Variants
SamplesNA12005
Known GenesHLA-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)essv19020
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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