A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758640



Internal ID9634099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28163817..29139232hg38UCSC Ensembl
Innerchr16:28175138..29150553hg19UCSC Ensembl
Innerchr16:28082639..29058054hg18UCSC Ensembl
Innerchr16:28082639..29058054hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38975416
hg19975416
hg18975416
hg17975416
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758418
SamplesNA19142, NA18975, NA18854, NA12762, NA07048, NA18537, NA19139, NA19141, NA10860
Known GenesAPOBR, ATP2A1, ATXN2L, CCDC101, CD19, CLN3, EIF3C, EIF3CL, IL27, LAT, LOC100289092, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, NPIPB6, NUPR1, RABEP2, RRN3P2, SBK1, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM, XPO6
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)esv2758640
Frequency
Sample Size270
Observed Gain4
Observed Loss5
Observed Complex0
Frequencyn/a


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