A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4359



Internal ID9625928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148456299..148587535hg38UCSC Ensembl
Innerchr1:147928420..148026038hg19UCSC Ensembl
Innerchr1:146395044..146492662hg18UCSC Ensembl
Innerchr1:145043332..145140950hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38131237
hg1997619
hg1897619
hg1797619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757754
Supporting Variants
SamplesNA18573
Known GenesLINC01138, NBPF10, NBPF8, PPIAL4A, PPIAL4B
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)essv4359
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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