A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757850



Internal ID9633309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240425704..240649454hg38UCSC Ensembl
Innerchr2:241365121..241588871hg19UCSC Ensembl
Innerchr2:241013794..241237544hg18UCSC Ensembl
Innerchr2:241085111..241308861hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38223751
hg19223751
hg18223751
hg17223751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759119
Supporting Variantsessv1595
SamplesNA18942
Known GenesANKMY1, CAPN10, CAPN10-AS1, DUSP28, GPC1, GPR35, MIR149, PP14571, RNPEPL1
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)esv2757850
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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