A curated catalogue of human genomic structural variation




Variant Details

Variant: essv21776



Internal ID9620087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52169480..52375550hg38UCSC Ensembl
Innerchr12:52563264..52769334hg19UCSC Ensembl
Innerchr12:50849531..51055601hg18UCSC Ensembl
Innerchr12:50849531..51055601hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38206071
hg19206071
hg18206071
hg17206071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758308
Supporting Variants
SamplesNA12239
Known GenesC12orf80, KRT7, KRT80, KRT81, KRT83, KRT85, KRT86, LINC00592
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)essv21776
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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