A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757810



Internal ID9979887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77627972..77874425hg38UCSC Ensembl
Innerchr2:77855098..78101551hg19UCSC Ensembl
Innerchr2:77708606..77955059hg18UCSC Ensembl
Innerchr2:77766753..78013206hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38246454
hg19246454
hg18246454
hg17246454
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759067
Supporting Variantsessv17340, essv20936
SamplesNA12801, NA18856
Known Genes
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)esv2757810
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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