A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23467



Internal ID9621966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7874275..7946093hg38UCSC Ensembl
Innerchr12:8026871..8098689hg19UCSC Ensembl
Innerchr12:7918138..7989956hg18UCSC Ensembl
Innerchr12:7918138..7989956hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3871819
hg1971819
hg1871819
hg1771819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758292
Supporting Variants
SamplesNA07034
Known GenesSLC2A14, SLC2A3
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)essv23467
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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