A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5532



Internal ID2940900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:118938778..119263510hg38UCSC Ensembl
Innerchr8:119951017..120275750hg19UCSC Ensembl
Innerchr8:120020198..120344931hg18UCSC Ensembl
Innerchr8:120020198..120344931hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38324733
hg19324734
hg18324734
hg17324734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758169
Supporting Variants
SamplesNA18529
Known GenesCOLEC10, MAL2, TNFRSF11B
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)essv5532
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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