A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757818



Internal ID9633277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:95304390..95486811hg38UCSC Ensembl
Innerchr2:95970138..96152559hg19UCSC Ensembl
Innerchr2:95333865..95516286hg18UCSC Ensembl
Innerchr2:95392012..95574433hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg38182422
hg19182422
hg18182422
hg17182422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759076
Supporting Variantsessv20018
SamplesNA07048
Known GenesFAHD2A, KCNIP3, TRIM43B
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)esv2757818
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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