A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758420



Internal ID9633879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30062634..30371959hg38UCSC Ensembl
Innerchr16:30073955..30383280hg19UCSC Ensembl
Innerchr16:29981456..30290781hg18UCSC Ensembl
Innerchr16:29981456..30290781hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38309326
hg19309326
hg18309326
hg17309326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758642
Supporting Variantsessv12321, essv18938, essv16072, essv14731, essv19962, essv18179, essv19495, essv16682, essv12261, essv20228, essv21547, essv23947, essv16225
SamplesNA12814, NA12813, NA19138, NA12005, NA19159, NA19161, NA19142, NA19101, NA12144, NA12864, NA12057, NA12873, NA18501
Known GenesALDOA, BOLA2, BOLA2B, CD2BP2, CORO1A, GDPD3, LOC388242, LOC440354, LOC595101, LOC606724, LOC613037, LOC613038, MAPK3, PPP4C, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4, TBC1D10B, TBX6, YPEL3
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)esv2758420
Frequency
Sample Size270
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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