A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758149



Internal ID9980226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14819191..15907197hg38UCSC Ensembl
Innerchr8:14676700..15764706hg19UCSC Ensembl
Innerchr8:14721071..15809077hg18UCSC Ensembl
Innerchr8:14721071..15809077hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381088007
hg191088007
hg181088007
hg171088007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759598
Supporting Variantsessv23648, essv18620
SamplesNA10863, NA12234
Known GenesMIR383, SGCZ, TUSC3
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)esv2758149
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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