A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19547



Internal ID9617610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5011594..5280443hg38UCSC Ensembl
Innerchr16:5061595..5330444hg19UCSC Ensembl
Innerchr16:5001596..5270445hg18UCSC Ensembl
Innerchr16:5001596..5270445hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38268850
hg19268850
hg18268850
hg17268850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758408
Supporting Variants
SamplesNA12864
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
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)essv19547
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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