A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758632



Internal ID9634091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14528198..15272693hg38UCSC Ensembl
Innerchr16:14622055..15366550hg19UCSC Ensembl
Innerchr16:14529556..15274051hg18UCSC Ensembl
Innerchr16:14529556..15274051hg17UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38744496
hg19744496
hg18744496
hg17744496
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758411
SamplesNA18621, NA18592, NA18508, NA18603, NA18545, NA07357, NA19171, NA18547, NA18942, NA18582, NA12762, NA19138, NA18964, NA18966, NA19209, NA19007, NA18976, NA18948, NA18981, NA18537, NA19012, NA18974, NA18608, NA18953, NA19003, NA19206, NA18952, NA18992, NA07348, NA18501, NA18971, NA19211, NA18854, NA19139, NA18623, NA18562, NA18577
Known GenesABCC6P2, BFAR, LOC100288162, MIR1972-1, MIR1972-2, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR6511A-2, MIR6511B-1, MIR6770-2, NOMO1, NPIPA1, NPIPA2, NPIPA3, NTAN1, PARN, 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)esv2758632
Frequency
Sample Size270
Observed Gain13
Observed Loss24
Observed Complex0
Frequencyn/a


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