A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19283



Internal ID9617317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100050267..100173735hg38UCSC Ensembl
Innerchr5:99385971..99509439hg19UCSC Ensembl
Innerchr5:99413870..99537338hg18UCSC Ensembl
Innerchr5:99413870..99537338hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38123469
hg19123469
hg18123469
hg17123469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758006
Supporting Variants
SamplesNA10838
Known Genes
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)essv19283
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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