A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23536



Internal ID9622043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247783892..248113844hg38UCSC Ensembl
Innerchr1:247947194..248277146hg19UCSC Ensembl
Innerchr1:246013817..246343769hg18UCSC Ensembl
Innerchr1:244273235..244603187hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38329953
hg19329953
hg18329953
hg17329953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757780
Supporting Variants
SamplesNA06993
Known GenesOR11L1, OR14A16, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2T8, OR2W3, TRIM58
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)essv23536
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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