A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758185



Internal ID9980262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:29794956..30073520hg38UCSC Ensembl
Innerchr9:29794954..30073518hg19UCSC Ensembl
Innerchr9:29784954..30063518hg18UCSC Ensembl
Innerchr9:29784954..30063518hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38278565
hg19278565
hg18278565
hg17278565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759686
Supporting Variantsessv20063, essv19089
SamplesNA07048, NA07055
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)esv2758185
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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