A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759454



Internal ID9981599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87649270..87731755hg38UCSC Ensembl
Innerchr6:88358988..88441473hg19UCSC Ensembl
Innerchr6:88415707..88498192hg18UCSC Ensembl
Innerchr6:88415707..88498192hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3882486
hg1982486
hg1882486
hg1782486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758068
SamplesNA12760, NA12752, NA12874
Known GenesAKIRIN2, ORC3
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)esv2759454
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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