A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621



Internal ID9612138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108156004..108444609hg38UCSC Ensembl
Innerchr1:108698626..108987231hg19UCSC Ensembl
Innerchr1:108500149..108788754hg18UCSC Ensembl
Innerchr1:108410668..108699273hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38288606
hg19288606
hg18288606
hg17288606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757746
Supporting Variants
SamplesNA19093
Known GenesNBPF4, SLC25A24
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)essv14621
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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