A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16629



Internal ID9614368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47875732..48095454hg38UCSC Ensembl
Innerchr8:48788293..49008014hg19UCSC Ensembl
Innerchr8:48950846..49170567hg18UCSC Ensembl
Innerchr8:48950846..49170567hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38219723
hg19219722
hg18219722
hg17219722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758156
Supporting Variants
SamplesNA19142
Known GenesMCM4, PRKDC, UBE2V2
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)essv16629
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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