A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16914



Internal ID9614685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70098724..70279319hg38UCSC Ensembl
Innerchr16:70132627..70313222hg19UCSC Ensembl
Innerchr16:68690128..68870723hg18UCSC Ensembl
Innerchr16:68690128..68870723hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38180596
hg19180596
hg18180596
hg17180596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758428
Supporting Variants
SamplesNA19205
Known GenesAARS, CLEC18C, EXOSC6, LOC100506060, PDPR
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)essv16914
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer