A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20936



Internal ID9960197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77701991..77874425hg38UCSC Ensembl
Innerchr2:77929117..78101551hg19UCSC Ensembl
Innerchr2:77782625..77955059hg18UCSC Ensembl
Innerchr2:77840772..78013206hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38172435
hg19172435
hg18172435
hg17172435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757810
Supporting Variants
SamplesNA12801
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)essv20936
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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