A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5500



Internal ID9627197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247783892..248065130hg38UCSC Ensembl
Innerchr1:247947194..248228432hg19UCSC Ensembl
Innerchr1:246013817..246295055hg18UCSC Ensembl
Innerchr1:244273235..244554473hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38281239
hg19281239
hg18281239
hg17281239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757780
Supporting Variants
SamplesNA18632
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)essv5500
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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