A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757889



Internal ID9633348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129940624..130221139hg38UCSC Ensembl
Innerchr3:129659467..129939982hg19UCSC Ensembl
Innerchr3:131142157..131422672hg18UCSC Ensembl
Innerchr3:131142165..131422680hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38280516
hg19280516
hg18280516
hg17280516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759177
Supporting Variantsessv21533, essv19501
SamplesNA12864, NA12873
Known GenesALG1L2, COL6A4P2, FAM86HP, TRH
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)esv2757889
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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