A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14597



Internal ID9612110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247783892..248065130hg38UCSC Ensembl
Innerchr1:247947194..248228432hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38n/a
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757780
Supporting Variants
SamplesNA19093
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)essv14597
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer