A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759411



Internal ID9634870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29501324..29704888hg38UCSC Ensembl
Innerchr6:29469101..29672665hg19UCSC Ensembl
Innerchr6:29577080..29780644hg18UCSC Ensembl
Innerchr6:29577080..29780644hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38203565
hg19203565
hg18203565
hg17203565
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758039
SamplesNA12057, NA18506
Known GenesGABBR1, LINC01015, MOG, OR2H2, SNORD32B, UBD, ZFP57
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)esv2759411
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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