A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22582



Internal ID9620983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:16091360..16829931hg38UCSC Ensembl
Innerchr16:16185217..16923788hg19UCSC Ensembl
Innerchr16:16092718..16831289hg18UCSC Ensembl
Innerchr16:16092718..16831289hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38738572
hg19738572
hg18738572
hg17738572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758412
Supporting Variants
SamplesNA07348
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)essv22582
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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