A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16472



Internal ID9614194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28221363..29139232hg38UCSC Ensembl
Innerchr16:28232684..29150553hg19UCSC Ensembl
Innerchr16:28140185..29058054hg18UCSC Ensembl
Innerchr16:28140185..29058054hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38917870
hg19917870
hg18917870
hg17917870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758418
Supporting Variants
SamplesNA19139
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
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)essv16472
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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