A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758505



Internal ID9633964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51842839..52030573hg38UCSC Ensembl
Innerchr19:52346092..52533826hg19UCSC Ensembl
Innerchr19:57037904..57225638hg18UCSC Ensembl
Innerchr19:57037904..57225638hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38187735
hg19187735
hg18187735
hg17187735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758767
Supporting Variantsessv20206, essv21274
SamplesNA10855, NA11832
Known GenesHCCAT3, ZNF350, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649
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)esv2758505
Frequency
Sample Size270
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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