A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758413



Internal ID9633872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:17479242..19147984hg38UCSC Ensembl
Innerchr16:17573099..19159306hg19UCSC Ensembl
Innerchr16:17480600..19066807hg18UCSC Ensembl
Innerchr16:17480600..19066807hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381668743
hg191586208
hg181586208
hg171586208
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2758634
Supporting Variantsessv16014, essv3192, essv10935, essv16445, essv6747, essv6575, essv4132, essv12330, essv8865, essv3875, essv11104, essv2087, essv3478, essv2799, essv1876, essv7322, essv7221, essv7538, essv4273, essv22988, essv444, essv327, essv22539
SamplesNA18621, NA18508, NA18603, NA18545, NA07357, NA18547, NA19138, NA18949, NA19209, NA18976, NA18555, NA18570, NA18974, NA18952, NA18992, NA07348, NA18501, NA18971, NA18987, NA19211, NA18994, NA19139, NA18562
Known GenesABCC6P1, ARL6IP1, COQ7, ITPRIPL2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO2, NPIPA7, NPIPA8, RPS15A, SMG1, TMC7
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)esv2758413
Frequency
Sample Size270
Observed Gain13
Observed Loss10
Observed Complex0
Frequencyn/a


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