A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758146



Internal ID9980223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3742002..6064670hg38UCSC Ensembl
Innerchr8:3599524..5922192hg19UCSC Ensembl
Innerchr8:3586932..5909600hg18UCSC Ensembl
Innerchr8:3586932..5909600hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382322669
hg192322669
hg182322669
hg172322669
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759585
Supporting Variantsessv1414, essv12700, essv3165, essv11627, essv3273, essv15651
SamplesNA19007, NA18912, NA19154, NA19012, NA18914, NA18972
Known GenesCSMD1
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)esv2758146
Frequency
Sample Size270
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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