A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10282



Internal ID9607317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12535622..12709792hg38UCSC Ensembl
Innerchr8:12393131..12567301hg19UCSC Ensembl
Innerchr8:12437502..12611672hg18UCSC Ensembl
Innerchr8:12437502..12611672hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38174171
hg19174171
hg18174171
hg17174171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758148
Supporting Variants
SamplesNA18506
Known GenesLOC100506990, LOC729732
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)essv10282
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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