A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10260



Internal ID9607293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22166183..22583973hg38UCSC Ensembl
Innerchr12:22319117..22736907hg19UCSC Ensembl
Innerchr12:22210384..22628174hg18UCSC Ensembl
Innerchr12:22210384..22628174hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38417791
hg19417791
hg18417791
hg17417791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758298, esv2758299
Supporting Variants
SamplesNA18506
Known GenesC2CD5, ST8SIA1
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)essv10260
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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