A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757965



Internal ID9633424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:164880664..165055198hg38UCSC Ensembl
Innerchr4:165801816..165976350hg19UCSC Ensembl
Innerchr4:166021266..166195800hg18UCSC Ensembl
Innerchr4:166159421..166333955hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38174535
hg19174535
hg18174535
hg17174535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759299
Supporting Variantsessv8207
SamplesNA19116
Known GenesFAM218A, LOC100506013, TRIM60, TRIM61
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)esv2757965
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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