A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758670



Internal ID9634129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89376499..89585740hg38UCSC Ensembl
Innerchr16:89442907..89652148hg19UCSC Ensembl
Innerchr16:87970408..88179649hg18UCSC Ensembl
Innerchr16:87970408..88179649hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38209242
hg19209242
hg18209242
hg17209242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758437
SamplesNA18503, NA19142, NA18861, NA18605, NA18561, NA12752, NA19209, NA18501, NA19093, NA19120, NA18550, NA12264, NA19223, NA19144, NA10855, NA18860, NA07029, NA18965, NA18505, NA18862, NA18949, NA19161, NA19211, NA11840, NA07034, NA18854, NA18856, NA18547, NA11831, NA12234, NA12239, NA18620, NA18515, NA19094, NA19206, NA19238, NA18558, NA19098, NA12057, NA19139, NA19221, NA19159, NA19145, NA19101, NA19116, NA10835, NA19099, NA11830, NA12003, NA19160, NA11829, NA19171, NA19240, NA12874, NA12760, NA19092, NA18555, NA07000
Known GenesANKRD11, CPNE7, RPL13, SNORD68, SPG7
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)esv2758670
Frequency
Sample Size270
Observed Gain58
Observed Loss0
Observed Complex0
Frequencyn/a


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