A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12236



Internal ID9609488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22289561..22428020hg38UCSC Ensembl
Innerchr12:22442495..22580954hg19UCSC Ensembl
Innerchr12:22333762..22472221hg18UCSC Ensembl
Innerchr12:22333762..22472221hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38138460
hg19138460
hg18138460
hg17138460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758299
Supporting Variants
SamplesNA19101
Known GenesST8SIA1
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)essv12236
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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