A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758412



Internal ID9633871
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758633
Supporting Variantsessv7291, essv3452, essv322, essv10944, essv4882, essv8806, essv6617, essv453, essv2311, essv4156, essv7370, essv22948, essv3862, essv16077, essv1843, essv7565, essv2822, essv6760, essv3196, essv7729, essv4295, essv20788, essv22408, essv2480, essv22582, essv2044, essv11129
SamplesNA18621, NA18592, NA18508, NA18561, NA18999, NA18603, NA18545, NA12146, NA18633, NA07357, NA18940, NA18949, NA19209, NA18976, NA18555, NA18570, NA18974, NA18952, NA18992, NA10861, NA07348, NA18501, NA18971, NA18987, NA19211, NA18994, NA18562
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)esv2758412
Frequency
Sample Size270
Observed Gain16
Observed Loss11
Observed Complex0
Frequencyn/a


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