A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6115



Internal ID9627880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9407491..9586532hg38UCSC Ensembl
Innerchr12:9560087..9739128hg19UCSC Ensembl
Innerchr12:9451354..9630395hg18UCSC Ensembl
Innerchr12:9451354..9630395hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38179042
hg19179042
hg18179042
hg17179042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758293
Supporting Variants
SamplesNA18532
Known GenesDDX12P
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)essv6115
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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