A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15651



Internal ID9613282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:4385933..4910878hg38UCSC Ensembl
Innerchr8:4243455..4768400hg19UCSC Ensembl
Innerchr8:4230863..4755808hg18UCSC Ensembl
Innerchr8:4230863..4755808hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38524946
hg19524946
hg18524946
hg17524946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758146
Supporting Variants
SamplesNA18912
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)essv15651
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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