A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18263



Internal ID9616184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142010028..142410994hg38UCSC Ensembl
Innerchr3:141728870..142129836hg19UCSC Ensembl
Innerchr3:143211560..143612526hg18UCSC Ensembl
Innerchr3:143211568..143612534hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38400967
hg19400967
hg18400967
hg17400967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757892
Supporting Variants
SamplesNA10846
Known GenesGK5, TFDP2, XRN1
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)essv18263
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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