A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758459



Internal ID9633918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:48525311..48759475hg38UCSC Ensembl
Innerchr17:46602673..46836837hg19UCSC Ensembl
Innerchr17:43957672..44191836hg18UCSC Ensembl
Innerchr17:43957672..44191836hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38234165
hg19234165
hg18234165
hg17234165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758694
Supporting Variantsessv22851, essv19288
SamplesNA12004, NA10838
Known GenesHOXB1, HOXB13, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HOXB-AS1, HOXB-AS3, MIR10A, MIR196A1, MIR3185, PRAC1, PRAC2
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)esv2758459
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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