A curated catalogue of human genomic structural variation




Variant Details

Variant: essv20206



Internal ID9618344
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 StatusS
Merged Variantsesv2758505
Supporting Variants
SamplesNA11832
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)essv20206
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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