A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22933



Internal ID9621373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33289089..34418373hg38UCSC Ensembl
Innerchr12:33442024..34571308hg19UCSC Ensembl
Innerchr12:33333291..34462575hg18UCSC Ensembl
Innerchr12:33333291..34462575hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381129285
hg191129285
hg181129285
hg171129285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758304
Supporting Variants
SamplesNA07357
Known GenesALG10, SYT10
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)essv22933
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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