A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757785



Internal ID9979862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13144175..13607697hg38UCSC Ensembl
Innerchr2:13284300..13747822hg19UCSC Ensembl
Innerchr2:13201751..13665273hg18UCSC Ensembl
Innerchr2:13234898..13698420hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38463523
hg19463523
hg18463523
hg17463523
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759026
Supporting Variantsessv15992, essv24302, essv17983, essv19393, essv24698
SamplesNA11829, NA12003, NA11840, NA10856, NA18501
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)esv2757785
Frequency
Sample Size270
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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