A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758069



Internal ID9980146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:88381018..88552199hg38UCSC Ensembl
Innerchr6:89090737..89261918hg19UCSC Ensembl
Innerchr6:89147456..89318637hg18UCSC Ensembl
Innerchr6:89147456..89318637hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38171182
hg19171182
hg18171182
hg17171182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759455
Supporting Variantsessv834, essv2519, essv5086, essv5159, essv45
SamplesNA18973, NA18991, NA19003, NA18564, NA18577
Known Genes
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)esv2758069
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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