A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11260



Internal ID9608404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131362269..131500154hg38UCSC Ensembl
Innerchr12:131846814..131984699hg19UCSC Ensembl
Innerchr12:130412767..130550652hg18UCSC Ensembl
Innerchr12:130371694..130509579hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38137886
hg19137886
hg18137886
hg17137886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758321
Supporting Variants
SamplesNA19204
Known GenesLOC338797
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)essv11260
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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