A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6383



Internal ID9628177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9407491..9678072hg38UCSC Ensembl
Innerchr12:9560087..9830668hg19UCSC Ensembl
Innerchr12:9451354..9721935hg18UCSC Ensembl
Innerchr12:9451354..9721935hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38270582
hg19270582
hg18270582
hg17270582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758293
Supporting Variants
SamplesNA18572
Known GenesCLEC2D, DDX12P, KLRB1, LOC374443
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)essv6383
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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