A curated catalogue of human genomic structural variation




Variant Details

Variant: essv564



Internal ID9627351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7704223..7946093hg38UCSC Ensembl
Innerchr12:7856819..8098689hg19UCSC Ensembl
Innerchr12:7748086..7989956hg18UCSC Ensembl
Innerchr12:7748086..7989956hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38241871
hg19241871
hg18241871
hg17241871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758292
Supporting Variants
SamplesNA18998
Known GenesCLEC4C, DPPA3, NANOG, NANOGNB, SLC2A14, 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)essv564
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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