A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758029



Internal ID9633488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175978375..176325899hg38UCSC Ensembl
Innerchr5:175405378..175752902hg19UCSC Ensembl
Innerchr5:175337984..175685508hg18UCSC Ensembl
Innerchr5:175337984..175685508hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38347525
hg19347525
hg18347525
hg17347525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759395
Supporting Variantsessv17348, essv7837, essv16145, essv12566
SamplesNA19098, NA18558, NA18856, NA19100
Known GenesFAM153B, LOC100507387, LOC100996385, LOC643201, SIMC1
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)esv2758029
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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