A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2311



Internal ID9621570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16091360..16762752hg38UCSC Ensembl
Innerchr16:16185217..16856609hg19UCSC Ensembl
Innerchr16:16092718..16764110hg18UCSC Ensembl
Innerchr16:16092718..16764110hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38671393
hg19671393
hg18671393
hg17671393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758412
Supporting Variants
SamplesNA18940
Known GenesABCC1, ABCC6, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
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)essv2311
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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