A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5185



Internal ID9626846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248524209..248702073hg38UCSC Ensembl
Innerchr1:248687510..248865374hg19UCSC Ensembl
Innerchr1:246754133..246931997hg18UCSC Ensembl
Innerchr1:245013551..245191415hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38177865
hg19177865
hg18177865
hg17177865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757781
Supporting Variants
SamplesNA18611
Known GenesOR14I1, OR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
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)essv5185
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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