A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18715



Internal ID9961160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:116622293..116732053hg38UCSC Ensembl
Innerchr1:117164915..117274675hg19UCSC Ensembl
Innerchr1:116966438..117076198hg18UCSC Ensembl
Innerchr1:116876957..116986717hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38109761
hg19109761
hg18109761
hg17109761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757748
Supporting Variants
SamplesNA12874
Known GenesC1orf137, IGSF3, MIR320B1
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)essv18715
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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