A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758317



Internal ID9980394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97776708..97951848hg38UCSC Ensembl
Innerchr12:98170486..98345626hg19UCSC Ensembl
Innerchr12:96694617..96869757hg18UCSC Ensembl
Innerchr12:96672954..96848094hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38175141
hg19175141
hg18175141
hg17175141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759914
Supporting Variantsessv16290
SamplesNA19161
Known Genes
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)esv2758317
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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