A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14616



Internal ID9612132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31158006..31338170hg38UCSC Ensembl
Innerchr12:31310940..31491104hg19UCSC Ensembl
Innerchr12:31202207..31382371hg18UCSC Ensembl
Innerchr12:31202207..31382371hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38180165
hg19180165
hg18180165
hg17180165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758303
Supporting Variants
SamplesNA19093
Known GenesFAM60A, FLJ13224
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)essv14616
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer