A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757788



Internal ID9633247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:27838469..28001763hg38UCSC Ensembl
Innerchr2:28061336..28224630hg19UCSC Ensembl
Innerchr2:27914840..28078134hg18UCSC Ensembl
Innerchr2:27972987..28136281hg17UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38163295
hg19163295
hg18163295
hg17163295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759034
Supporting Variantsessv6814
SamplesNA18579
Known GenesBRE, BRE-AS1, MIR4263, RBKS
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)esv2757788
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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