A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15805



Internal ID9978546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28957849..29136916hg38UCSC Ensembl
Innerchr12:29110782..29289849hg19UCSC Ensembl
Innerchr12:29002049..29181116hg18UCSC Ensembl
Innerchr12:29002049..29181116hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38179068
hg19179068
hg18179068
hg17179068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758301
Supporting Variants
SamplesNA19223
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)essv15805
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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