A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758408



Internal ID9633867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4922849..5374828hg38UCSC Ensembl
Innerchr16:4972850..5424829hg19UCSC Ensembl
Innerchr16:4912851..5364830hg18UCSC Ensembl
Innerchr16:4912851..5364830hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38451980
hg19451980
hg18451980
hg17451980
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2760069
Supporting Variantsessv19547, essv3074, essv10673
SamplesNA18855, NA18981, NA12864
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, PPL, 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)esv2758408
Frequency
Sample Size270
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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