A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701



Internal ID9628531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148734148..148892236hg19UCSC Ensembl
Innerchr1:147000772..147158860hg18UCSC Ensembl
Innerchr1:145513740..145671828hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg19158089
hg18158089
hg17158089
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757754
Supporting Variants
SamplesNA18608
Known GenesLOC101929780, NBPF16, PPIAL4D, PPIAL4E, PPIAL4F
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)essv6701
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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