A curated catalogue of human genomic structural variation




Variant Details

Variant: essv22594



Internal ID9620996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14661145..15104501hg38UCSC Ensembl
Innerchr16:14755002..15198358hg19UCSC Ensembl
Innerchr16:14662503..15105859hg18UCSC Ensembl
Innerchr16:14662503..15105859hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38443357
hg19443357
hg18443357
hg17443357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758411
Supporting Variants
SamplesNA07348
Known GenesABCC6P2, BFAR, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, NTAN1, PDXDC1, PLA2G10, RRN3
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)essv22594
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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