A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758290



Internal ID9633749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:348267..881378hg38UCSC Ensembl
Innerchr12:457433..990544hg19UCSC Ensembl
Innerchr12:327694..860805hg18UCSC Ensembl
Innerchr12:327694..860805hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38533112
hg19533112
hg18533112
hg17533112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759875
Supporting Variantsessv11814
SamplesNA18521
Known GenesB4GALNT3, CCDC77, KDM5A, NINJ2, WNK1
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)esv2758290
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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