A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13717



Internal ID9611133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42761453..42931292hg38UCSC Ensembl
Innerchr19:43265605..43435444hg19UCSC Ensembl
Innerchr19:47957445..48127284hg18UCSC Ensembl
Innerchr19:47957445..48127284hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38169840
hg19169840
hg18169840
hg17169840
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758501
Supporting Variants
SamplesNA19119
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7, PSG8
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)essv13717
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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