A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758046



Internal ID9633505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34414715..34746900hg38UCSC Ensembl
Innerchr6:34382492..34714677hg19UCSC Ensembl
Innerchr6:34490470..34822655hg18UCSC Ensembl
Innerchr6:34490470..34822655hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38332186
hg19332186
hg18332186
hg17332186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759418
Supporting Variantsessv1208
SamplesNA18951
Known GenesC6orf106, PACSIN1, RPS10, RPS10-NUDT3, SPDEF
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)esv2758046
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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