A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1034



Internal ID9607381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144300010..144472295hg38UCSC Ensembl
Innerchr8:145523693..145697678hg19UCSC Ensembl
Innerchr8:145494501..145668486hg18UCSC Ensembl
Innerchr8:145494501..145668486hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38172286
hg19173986
hg18173986
hg17173986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758625
Supporting Variants
SamplesNA19005
Known GenesADCK5, CPSF1, CYHR1, DGAT1, FBXL6, HSF1, KIFC2, LOC100287098, MIR1234, MIR6848, MIR6849, MIR6893, MIR939, SCRT1, SLC39A4, SLC52A2, TMEM249, TONSL, VPS28
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)essv1034
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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