A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5032



Internal ID9626677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162106358..162533566hg38UCSC Ensembl
Innerchr1:162076148..162503356hg19UCSC Ensembl
Innerchr1:160342772..160769980hg18UCSC Ensembl
Innerchr1:158807806..159235014hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38427209
hg19427209
hg18427209
hg17427209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757758
Supporting Variants
SamplesNA18576
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP, SH2D1B, UHMK1
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)essv5032
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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