A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22362



Internal ID9620739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58628947..58929264hg38UCSC Ensembl
Innerchr12:59022729..59323045hg19UCSC Ensembl
Innerchr12:57308996..57609312hg18UCSC Ensembl
Innerchr12:57308996..57609312hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38300318
hg19300317
hg18300317
hg17300317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758311
Supporting Variants
SamplesNA12875
Known GenesLRIG3
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)essv22362
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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