A curated catalogue of human genomic structural variation




Variant Details

Variant: essv376



Internal ID9970598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:49974033..50225435hg38UCSC Ensembl
Innerchr8:50886593..51137995hg19UCSC Ensembl
Innerchr8:51049146..51300548hg18UCSC Ensembl
Innerchr8:51049146..51300548hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38251403
hg19251403
hg18251403
hg17251403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758621
Supporting Variants
SamplesNA18971
Known GenesSNTG1
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)essv376
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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