A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22991



Internal ID9621437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:38180396..38409253hg38UCSC Ensembl
Innerchr12:38574198..38803055hg19UCSC Ensembl
Innerchr12:36860465..37089322hg18UCSC Ensembl
Innerchr12:36860465..37089322hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38228858
hg19228858
hg18228858
hg17228858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758305
Supporting Variants
SamplesNA07357
Known GenesALG10B
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)essv22991
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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